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<title>
Entry
- #226600 - EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
- OMIM
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<span class="h4">#226600</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/226600"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<div><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11434&Typ=Pat" title="Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal recessive genera…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11435&Typ=Pat" title="Recessive dystrophic epidermolysis bullosa inversa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Recessive dystrophic epide…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1304/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79408" title="Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal recessive genera…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79409" title="Recessive dystrophic epidermolysis bullosa inversa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Recessive dystrophic epide…</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0f1096a5-b730-4947-9ec3-002cd75b2339/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060642" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/226600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/results?search_type=advanced&omia_id=000340,000341" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:226600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 48528004<br />
<strong>ORPHA:</strong> 79408, 79409<br />
<strong>DO:</strong> 0060642<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
226600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE<br />
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1<br />
EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/285?start=-3&limit=10&highlight=285">
3p21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Epidermolysis bullosa dystrophica, autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226600"> 226600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
COL7A1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120120"> 120120 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/285?start=-3&limit=10&highlight=285">
3p21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Epidermolysis bullosa dystrophica inversa
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226600"> 226600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
COL7A1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120120"> 120120 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/285?start=-3&limit=10&highlight=285">
3p21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Epidermolysis bullosa dystrophica, localisata variant
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226600"> 226600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
COL7A1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120120"> 120120 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/226600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/226600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/226600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Poor growth due to poor nutrition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Corneal abrasions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85848002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85848002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010032</a>]</span><br /> -
Eyelid ulcerations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313253009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313253009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0730570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0730570</a>]</span><br /> -
Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br /> -
Corneal scarring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95726001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95726001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349702</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000559" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000559</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000559" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000559</a>]</span><br /> -
Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Oral blisters <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673616</a>]</span><br /> -
Lingual adhesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673617</a>]</span><br /> -
Microstomia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=10b0833efede21449fd514c4267cdf57" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Mouth,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=10b0833efede21449fd514c4267cdf57&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Esophageal blisters <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673614</a>]</span><br /> -
Esophageal strictures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63305008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63305008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K22.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K22.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002043" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002043</a>]</span><br /> -
Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
Anal blisters <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673615</a>]</span><br /> -
Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Digital fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673618</a>]</span><br /> -
Pseudosyndactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span><br /> -
Mitten deformities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Digital fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673618</a>]</span><br /> -
Pseudosyndactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span><br /> -
Mitten deformities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dystrophic epidermolysis bullosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254185007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254185007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079294</a>]</span><br /> -
Blistering, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676803</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/339008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">339008</a>]</span><br /> -
Erosions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15498001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15498001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1959609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1959609</a>, <a href="https://bioportal.bioontology.org/search?q=C0333307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333307</a>]</span><br /> -
Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br /> -
Atrophic scarring, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673621</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409766009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409766009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239172000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239172000</a>]</span><br /> -
Milia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37719003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37719003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254679001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254679001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span><br /> -
Mucosal lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673622</a>]</span><br /> -
Albopapuloid lesions may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676806</a>]</span><br /> -
Congenital absence of skin in areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673623</a>]</span><br />
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<em> Electron Microscopy </em>
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<div style="margin-left: 2em;">
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- Sublamina densa level of tissue separation beneath basal membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676807</a>]</span><br /> -
Decreased number or absence of anchoring fibrils at dermal-epidermal junction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673624</a>]</span><br /> -
Hypotrophic anchoring fibrils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676809</a>]</span><br /> -
Decreased staining for collagen VII <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676810</a>]</span><br />
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<em> Nails </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Dystrophic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
Nail atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276458009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276458009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0455950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0455950</a>]</span><br /> -
Loss of nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22743000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22743000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263540</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025088</a>]</span><br />
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<em> Hair </em>
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- Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br />
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<strong> HEMATOLOGY </strong>
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- Anemia due to poor nutrition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673620</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Squamous cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset at birth or infancy<br /> -
See also dominant DEB (<a href="/entry/131750">131750</a>), an allelic disorder with a less severe phenotype<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, <a href="/entry/120120#0001">120120.0001</a>)<br />
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<p>A number sign (#) is used with this entry because autosomal recessive dystrophic epidermolysis bullosa (RDEB) and the RDEB localisata variant are caused by homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1; <a href="/entry/120120">120120</a>) on chromosome 3p21.</p>
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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of the hands, feet, and joints. Patients also developed strictures of the gastrointestinal tract from mucosal involvement, which can lead to poor nutrition. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma (<a href="#15" class="mim-tip-reference" title="Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J. &lt;strong&gt;Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.&lt;/strong&gt; Am. J. Hum. Genet. 58: 671-681, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8644729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8644729&lt;/a&gt;]" pmid="8644729">Christiano et al., 1996</a>; <a href="#54" class="mim-tip-reference" title="Varki, R., Sadowski, S., Uitto, J., Pfendner, E. &lt;strong&gt;Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.&lt;/strong&gt; J. Med. Genet. 44: 181-192, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16971478/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16971478&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16971478[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2006.045302&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16971478">Varki et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8644729+16971478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
<p>Allelic disorders include autosomal dominant DEB (DDEB; <a href="/entry/131750">131750</a>), in which the phenotype is less severe, and nonsyndromic congenital nail disorder-8 (NDNC8; <a href="/entry/607523">607523</a>), which has been found to segregate as an autosomal dominant trait in heterozygous carriers in some families with recessive DEB.</p>
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<strong>Clinical Features</strong>
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<p><a href="#16" class="mim-tip-reference" title="Christiano, A. M., Suga, Y., Greenspan, D. S., Ogawa, H., Uitto, J. &lt;strong&gt;Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; J. Clin. Invest. 95: 1328-1334, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7883979/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7883979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI117783&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7883979">Christiano et al. (1995)</a> reported 3 Japanese brothers, aged 20, 16, and 13 years, with autosomal recessive DEB. All had extreme fragility of the skin since birth. The skin involvement led to extensive mutilating scarring, loss of nails, fusion of the digits, and joint contractures. The patients also had blistering of the mucous membranes in the oral cavity and esophageal strictures that caused severe malnutrition and anemia, which led to death in the oldest brother at age 21 years. Skin biopsies showed subbasal lamina dermal-epidermal separation with no anchoring fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7883979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J. &lt;strong&gt;Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.&lt;/strong&gt; Am. J. Hum. Genet. 58: 671-681, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8644729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8644729&lt;/a&gt;]" pmid="8644729">Christiano et al. (1996)</a> reported 4 unrelated families in which 5 individuals had autosomal recessive DEB. Two of the families were consanguineous. All presented at birth or soon after with skin blistering on the fingers, lips, oral mucosa, and ears, which later became widespread. Older patients had multiple erosions, scarring, mitten deformities of the hands from fusion, and joint contractures. Other features included loss of nails and esophageal strictures. Electron microscopy showed hypoplastic anchoring fibrils and cleavage at the level of the sublamina densa, consistent with dystrophic EB. One patient had skin missing from the left thumb and both feet at birth, showing phenotypic overlap with Bart syndrome (<a href="/entry/132000">132000</a>). Obligate heterozygous parents were clinically unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Recessive Dystrophic Epidermolysis Bullosa Inversa</em></strong></p><p>
The inversa subtype of autosomal recessive dystrophic epidermolysis bullosa is a rare variant characterized by lesions involving primarily the flexural areas of the body with sparing of the fingers and toes (<a href="#57" class="mim-tip-reference" title="Wright, J. T., Fine, J.-D., Johnson, L. B., Steinmetz, T. T. &lt;strong&gt;Oral involvement of recessive dystrophic epidermolysis bullosa inversa.&lt;/strong&gt; Am. J. Med. Genet. 47: 1184-1188, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291553/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8291553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470811&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8291553">Wright et al., 1993</a>). <a href="#22" class="mim-tip-reference" title="Gedde-Dahl, T., Jr. &lt;strong&gt;Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study.&lt;/strong&gt; Baltimore: Johns Hopkins Press (pub.) 1971. Pp. 117-119."None>Gedde-Dahl (1971)</a> first described EBD inversa in 13 patients from 6 Norwegian families and noted the difference in distribution of skin involvement and in the course of the disease, including corneal, perianal and perivulvar involvement, compared to the Hallopeau-Siemens type of DEB. <a href="#24" class="mim-tip-reference" title="Hashimoto, I., Anton-Lamprecht, I., Hofbauer, M. &lt;strong&gt;Epidermolysis bullosa dystrophica inversa: Bericht ueber zwei Geschwisterfaelle.&lt;/strong&gt; Hautarzt 27: 532-537, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1002472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1002472&lt;/a&gt;]" pmid="1002472">Hashimoto et al. (1976)</a> described the disorder in 2 sisters. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1002472+8291553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Pearson, R. W., Paller, A. S. &lt;strong&gt;Dermolytic (dystrophic) epidermolysis bullosa inversa.&lt;/strong&gt; Arch. Derm. 124: 544-547, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3355197/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3355197&lt;/a&gt;]" pmid="3355197">Pearson and Paller (1988)</a> described 4 American patients with DEB inversa and emphasized the occurrence of severe oral and esophageal mucosal involvement. Fingernails were normal or minimally involved, whereas toenails were mildly to moderately dystrophic or atrophic. The microscopic changes were said to be similar to those of the Hallopeau-Siemens form of epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3355197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Wright, J. T., Fine, J.-D., Johnson, L. B., Steinmetz, T. T. &lt;strong&gt;Oral involvement of recessive dystrophic epidermolysis bullosa inversa.&lt;/strong&gt; Am. J. Med. Genet. 47: 1184-1188, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291553/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8291553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470811&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8291553">Wright et al. (1993)</a> reported 10 patients with RDEB inversa in whom the diagnosis was confirmed by tissue separation below the lamina densa and the clinical presentation of blister formation that typically localized to flexural areas. Although there was clinical variability in the severity and distribution of skin involvement, none of the patients showed pronounced digital webbing, severe generalized blistering, or growth retardation characteristic of Hallopeau-Siemens DEB. All patients had oral involvement, including ankyloglossia, loss of tongue papillae, and obliteration of the oral vestibule between the lips and gingiva. The oral opening was significantly reduced in older patients compared to controls. The teeth were not clinically abnormal or malformed and showed no evidence of generalized enamel hypoplasia. <a href="#57" class="mim-tip-reference" title="Wright, J. T., Fine, J.-D., Johnson, L. B., Steinmetz, T. T. &lt;strong&gt;Oral involvement of recessive dystrophic epidermolysis bullosa inversa.&lt;/strong&gt; Am. J. Med. Genet. 47: 1184-1188, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291553/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8291553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470811&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8291553">Wright et al. (1993)</a> concluded that the inversa form of RDEB presents with oral findings that are similar to but milder than those seen in the Hallopeau-Siemens variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8291553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Hovnanian, A., Hilal, L., Blanchet-Bardon, C., de Prost, Y., Christiano, A. M., Uitto, J., Goossens, M. &lt;strong&gt;Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; Am. J. Hum. Genet. 55: 289-296, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8037207/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8037207&lt;/a&gt;]" pmid="8037207">Hovnanian et al. (1994)</a> reported 2 unrelated patients with recessive DEB inversa. An 11-year-old girl had neck, axilla, groin, and oral blistering with sparing of the hands and feet as well as sparing of the rest of the body. She had had severe and recurrent esophageal stenosis. The other patient had a similar clinical course. Skin biopsies of both patients showed cleavage beneath the lamina densa, absence of normal anchoring fibrils, and small numbers of rudimentary fibrils on electron microscopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8037207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Lin, A. N., Smith, L. T., Fine, J.-D. &lt;strong&gt;Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies.&lt;/strong&gt; J. Am. Acad. Derm. 33: 361-365, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7615886/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7615886&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0190-9622(95)91434-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7615886">Lin et al. (1995)</a> reported 2 cases of dystrophic epidermolysis bullosa inversa. One patient had finger web scarring that required surgical correction and also had mild syndactyly of toes. The parents of one of the patients were cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7615886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Destro, M., Wallow, I. H. L., Brightbill, F. S. &lt;strong&gt;Recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; Arch. Ophthal. 105: 1248-1252, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3307723/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3307723&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1987.01060090106038&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3307723">Destro et al. (1987)</a> reported a 40-year-old woman with recessive DEB and ocular manifestations. She presented with lid ulcerations, chronic conjunctivitis, diffuse subepithelial corneal scarring, corneal ulceration, and cataracts. Management with intensive lubricant therapy, soft-bandage contact lenses, and cataract extraction successfully restored her sight. Histologic examination via light and electron microscopy revealed blister formation and scarring beneath the epithelial basement membrane of both the skin and cornea, confirming the diagnosis of RDEB. Other features included fusion of all fingers and toes into mittenlike deformities and severe contractures of all 4 limbs. She had survived a spontaneous esophageal perforation and had had 15 squamous cell carcinomas removed from the limbs. A similarly affected sister died at the age of 26 years from metastatic squamous cell carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3307723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of an analysis of 246 patients with epidermolysis bullosa of various types, <a href="#51" class="mim-tip-reference" title="Travis, S. P. L., McGrath, J. A., Turnbull, A. J., Schofield, O. M., Chan, O., O&#x27;Connor, A. F., Mayou, B., Eady, R. A. J., Thompson, R. P. H. &lt;strong&gt;Oral and gastrointestinal manifestations of epidermolysis bullosa.&lt;/strong&gt; Lancet 340: 1505-1506, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1361600/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1361600&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)92759-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1361600">Travis et al. (1992)</a> reported that dysphagia developed in 76% of those with recessive dystrophic EB, in 20% of those with dominant dystrophic EB, in 15% of those with junctional EB (see, e.g., <a href="/entry/226700">226700</a>), and in 2% of those with simplex forms (see, e.g., <a href="/entry/131950">131950</a>). Lingual adhesions or microstomia occurred in dystrophic epidermolysis bullosa only, and were 8 times more common in the recessive form than in the dominant form. These lesions were provoked by the trauma of eating and reduced food intake, which exacerbated constipation caused by anal blisters and resulted in malnutrition. Stricture of the esophagus was frequent, with single or multiple esophageal webs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bass, H. N., Miranda, C., Oei, R., Crandall, B. F. &lt;strong&gt;Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein.&lt;/strong&gt; Prenatal Diag. 13: 55-59, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7680472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7680472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970130108&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7680472">Bass et al. (1993)</a> described a prematurely born female with this disorder whose mother had strikingly elevated mid-trimester serum and amniotic fluid concentrations of alpha-fetoprotein (AFP; <a href="/entry/104150">104150</a>), a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Bourke, J. F., Browne, G., Gaffney, E. F., Young, M. &lt;strong&gt;Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa.&lt;/strong&gt; J. Am. Acad. Derm. 33: 370-372, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7615888/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7615888&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0190-9622(95)91436-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7615888">Bourke et al. (1995)</a> observed fatal systemic amyloidosis in 2 sisters with recessive DEB. One was 22 years old when the diagnosis of amyloidosis was made. Despite rapidly deteriorating renal function, dialysis was deemed impossible because of her extensive cutaneous infection. The older sister had negative findings of a search for amyloidosis at the age of 26 years. Although her skin disease was equally as severe as her sister's, she did not develop amyloid nephropathy until the age of 35 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7615888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of an analysis of 246 patients with epidermolysis bullosa, <a href="#34" class="mim-tip-reference" title="Melville, C., Atherton, D., Burch, M., Cohn, A., Sullivan, I. &lt;strong&gt;Fatal cardiomyopathy in dystrophic epidermolysis bullosa.&lt;/strong&gt; Brit. J. Derm. 135: 603-606, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8915155/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8915155&lt;/a&gt;]" pmid="8915155">Melville et al. (1996)</a> reported 2 unrelated children with autosomal recessive dystrophic EB who developed fatal dilated cardiomyopathy. Both were malnourished and showed severely retarded growth. The authors suggested that the likely cause for the cardiomyopathy was a micronutrient deficiency, most probably selenium deficiency, because the serum selenium level was reduced in the case in which they measured it, and also in 14 of 25 other children with dystrophic epidermolysis bullosa. Echocardiographic screening of 18 other patients with recessive dystrophic epidermolysis bullosa showed no evidence of cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8915155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#1" class="mim-tip-reference" title="Anton-Lamprecht, I., Rauskolb, R., Jovanovic, V., Kern, B., Arnold, M.-L., Schenck, W. &lt;strong&gt;Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin.&lt;/strong&gt; Lancet 318: 1077-1079, 1981. Note: Originally Volume 2.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6118526/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6118526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(81)91278-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6118526">Anton-Lamprecht et al. (1981)</a> achieved prenatal diagnosis of the Hallopeau-Siemens type of epidermolysis bullosa dystrophica by inspection of the skin through the fetoscope, confirmed by electron microscopic examination of a skin biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6118526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Hovnanian, A., Hilal, L., Blanchet-Bardon, C., Bodemer, C., de Prost, Y., Stark, C. A., Christiano, A. M., Dommergues, M., Terwilliger, J. D., Izquierdo, L., Conteville, P., Dumez, Y., Uitto, J., Goossens, M. &lt;strong&gt;DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.&lt;/strong&gt; J. Invest. Derm. 104: 456-461, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7706758/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7706758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12605893&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7706758">Hovnanian et al. (1995)</a> used COL7A1 gene analysis for successful first-trimester prenatal diagnosis in 6 families at risk for recurrence of generalized recessive DEB. The disorder was of the severe Hallopeau-Siemens form in 5 families and the generalized nonmutilating form in 1. In all cases analysis of fetal DNA from amniotic fluid cells showed that the fetus had inherited at least one normal COL7A1 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7706758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p><a href="#28" class="mim-tip-reference" title="Hovnanian, A., Duquesnoy, P., Blanchet-Bardon, C., Knowlton, R. G., Amselem, S., Lathrop, M., II, Dubertret, L., Uitto, J., Goossens, M. &lt;strong&gt;Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. (Abstract)&lt;/strong&gt; Clin. Res. 40: 188A only, 1992."None>Hovnanian et al. (1992)</a> demonstrated linkage between a PvuII polymorphic site in the COL7A1 gene on chromosome 3p21 and recessive dystrophic epidermolysis bullosa in 19 informative families (maximum lod score of 3.95).</p><p><a href="#41" class="mim-tip-reference" title="Ryynanen, M., Knowlton, R. G., Parente, M. G., Chung, L. C., Chu, M.-L., Uitto, J. &lt;strong&gt;Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.&lt;/strong&gt; Am. J. Hum. Genet. 49: 797-803, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1680286/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1680286&lt;/a&gt;]" pmid="1680286">Ryynanen et al. (1991)</a> and <a href="#52" class="mim-tip-reference" title="Uitto, J., Ryynanen, M., Christiano, A. M., Hovnanian, A., Frantz, R., Bauer, E. A., Knowlton, R. G. &lt;strong&gt;Genetic linkage of the type VII collagen gene (COL7A1) to dominant dystrophic epidermolysis bullosa (DDEB) in families with abnormal anchoring fibrils. (Abstract)&lt;/strong&gt; Clin. Res. 40: 188A, 1992."None>Uitto et al. (1992)</a> demonstrated linkage between a PvuII RFLP of the COL7A1 gene and dominant DEB, suggesting that the autosomal dominant and autosomal recessive disorders are due to mutations in the same gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1680286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p>In an African American family in which 4 individuals related as first cousins once removed had autosomal recessive epidermolysis bullosa dystrophica, <a href="#14" class="mim-tip-reference" title="Christiano, A. M., Greenspan, D. S., Hoffman, G. G., Zhang, X., Tamai, Y., Lin, A. N., Dietz, H. C., Hovnanian, A., Uitto, J. &lt;strong&gt;A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; Nature Genet. 4: 62-66, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8513326/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8513326&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0593-62&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8513326">Christiano et al. (1993)</a> identified a homozygous mutation in the COL7A1 gene (M2798K; <a href="/entry/120120#0001">120120.0001</a>). The unaffected mother and half brother were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8513326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 Japanese brothers with autosomal recessive DEB, <a href="#16" class="mim-tip-reference" title="Christiano, A. M., Suga, Y., Greenspan, D. S., Ogawa, H., Uitto, J. &lt;strong&gt;Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; J. Clin. Invest. 95: 1328-1334, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7883979/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7883979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI117783&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7883979">Christiano et al. (1995)</a> found compound heterozygosity for 2 truncating mutations in the COL7A1 gene (<a href="/entry/120120#0005">120120.0005</a>; <a href="/entry/120120#0006">120120.0006</a>). The unaffected parents were each heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7883979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J. &lt;strong&gt;Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.&lt;/strong&gt; Am. J. Hum. Genet. 58: 671-681, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8644729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8644729&lt;/a&gt;]" pmid="8644729">Christiano et al. (1996)</a> identified glycine substitution mutations in the COL7A1 gene in affected members of 4 unrelated families with RDEB. Two families were compound heterozygous for a glycine substitution and a premature termination mutation (see, e.g., <a href="/entry/120120#0036">120120.0036</a>; <a href="/entry/120120#0037">120120.0037</a>), whereas the other 2 families were homozygous for a glycine substitution (see, e.g., <a href="/entry/120120#0038">120120.0038</a>). In all 4 recessive families, the glycine substitution mutation was silent in heterozygous carriers who had no disease manifestations. <a href="#15" class="mim-tip-reference" title="Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J. &lt;strong&gt;Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.&lt;/strong&gt; Am. J. Hum. Genet. 58: 671-681, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8644729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8644729&lt;/a&gt;]" pmid="8644729">Christiano et al. (1996)</a> stated that the COL7A1 gene is thus unique among the collagen genes in that different glycine substitutions can be either silent in heterozygotes or can result in a dominantly inherited DEB. Inspection of the location of the glycine substitutions did not show a positional effect in terms of phenotype or pattern of inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with RDEB previously reported by <a href="#25" class="mim-tip-reference" title="Hatta, N., Takata, M., Shimizu, H. &lt;strong&gt;Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa.&lt;/strong&gt; Brit. J. Derm. 133: 619-624, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7577595/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7577595&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1995.tb02716.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7577595">Hatta et al. (1995)</a>, <a href="#44" class="mim-tip-reference" title="Shimizu, H., Hammami-Hauasli, N., Hatta, N., Nishikawa, T., Bruckner-Tuderman, L. &lt;strong&gt;Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.&lt;/strong&gt; J. Invest. Derm. 113: 419-421, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10469344/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10469344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1747.1999.00713.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10469344">Shimizu et al. (1999)</a> identified compound heterozygosity for 2 mutations in the COL7A1 gene G2316R (<a href="/entry/120120#0042">120120.0042</a>) and G2287R (<a href="/entry/120120#0023">120120.0023</a>). Heterozygous carriers of the G2287R allele had normal skin but isolated toenail dystrophy, also called nonsyndromic congenital nail dystrophy-8 (NDNC8; <a href="/entry/607523">607523</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7577595+10469344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Sato-Matsumura, K. C., Yasukawa, K., Tomita, Y., Shimizu, H. &lt;strong&gt;Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.&lt;/strong&gt; Arch. Derm. 138: 269-271, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11843659/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11843659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.138.2.269&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11843659">Sato-Matsumura et al. (2002)</a> studied 2 unrelated Japanese families with RDEB in which isolated toenail dystrophy also segregated as an autosomal dominant trait. In family members with dystrophic changes limited to the toenails but without skin fragility, they identified heterozygosity for the glycine substitutions G1595R (<a href="/entry/120120#0024">120120.0024</a>) and G1815R (<a href="/entry/120120#0025">120120.0025</a>), respectively. The patients with RDEB in each family were compound heterozygous for 1 of these mutations, respectively, in combination with a nonsense (<a href="/entry/120120#0043">120120.0043</a>) or frameshift mutation (<a href="/entry/120120#0006">120120.0006</a>) in COL7A1. These results supported the idea that certain glycine substitutions in the collagenous domain of COL7A1 cause a limited nail deformity, and that these alleles can also contribute to variable degrees of skin fragility when present in combination with nonsense or frameshift mutations in COL7A1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11843659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Varki, R., Sadowski, S., Uitto, J., Pfendner, E. &lt;strong&gt;Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.&lt;/strong&gt; J. Med. Genet. 44: 181-192, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16971478/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16971478&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16971478[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2006.045302&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16971478">Varki et al. (2007)</a> analyzed the COL7A1 gene in 310 patients with dystrophic epidermolysis bullosa. Mutations were found in 1 or both alleles in 243 (78.4%) patients, comprising 355 mutant alleles of the anticipated 438 (81.1%) mutant alleles. The authors reviewed the spectrum of COL7A1 mutation and genotype-phenotype correlations, noting that patients with severe recessive DEB tended to have truncating mutations, whereas those with milder dominant DEB tended to have glycine substitutions. Seven patients had features of both dominant and recessive forms of disease and were found to carry both dominant and recessive mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16971478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients, one with recessive DEB inversa and another with classic RDEB, <a href="#30" class="mim-tip-reference" title="Hovnanian, A., Hilal, L., Blanchet-Bardon, C., de Prost, Y., Christiano, A. M., Uitto, J., Goossens, M. &lt;strong&gt;Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; Am. J. Hum. Genet. 55: 289-296, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8037207/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8037207&lt;/a&gt;]" pmid="8037207">Hovnanian et al. (1994)</a> identified a heterozygous mutation in the COL7A1 gene (R109X; <a href="/entry/120120#0040">120120.0040</a>). Although a second pathogenic mutation was not identified, the authors presenting convincing evidence that the disorder was recessive in both cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8037207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with recessive DEB inversa, <a href="#31" class="mim-tip-reference" title="Kahofer, P., Bruckner-Tuderman, L., Metze, D., Lemmink, H., Scheffer, H., Smolle, J. &lt;strong&gt;Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.&lt;/strong&gt; Pediat. Derm. 20: 243-248, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12787275/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12787275&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1525-1470.2003.20312.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12787275">Kahofer et al. (2003)</a> identified compound heterozygosity for 2 mutations in the COL7A1 gene (<a href="/entry/120120#0041">120120.0041</a>; <a href="/entry/120120#0045">120120.0045</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12787275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Modifier Genes</em></strong></p><p>
A defect in collagenase (MMP1; <a href="/entry/120353">120353</a>) was implicated early on in the pathogenesis of dystrophic epidermolysis bullosa. Type VII collagen is susceptible to degradation by collagenase (<a href="#43" class="mim-tip-reference" title="Seltzer, J. L., Eisen, A. Z., Bauer, E. A., Morris, N. P., Glanville, R. W., Burgeson, R. E. &lt;strong&gt;Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.&lt;/strong&gt; J. Biol. Chem. 264: 3822-3826, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2537292/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2537292&lt;/a&gt;]" pmid="2537292">Seltzer et al., 1989</a>). <a href="#9" class="mim-tip-reference" title="Bauer, E. A. &lt;strong&gt;Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures.&lt;/strong&gt; Proc. Nat. Acad. Sci. 74: 4646-4650, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/200924/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;200924&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.74.10.4646&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="200924">Bauer (1977)</a> found that procollagenase purified from fibroblasts of 2 patients with DEB was more thermolabile, showed decreased calcium affinity, and had decreased activity in vitro compared to control values. <a href="#7" class="mim-tip-reference" title="Bauer, E. A., Gedde-Dahl, T., Jr., Eisen, A. Z. &lt;strong&gt;The role of human skin collagenase in epidermolysis bullosa.&lt;/strong&gt; J. Invest. Derm. 68: 119-124, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/190326/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;190326&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12492226&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="190326">Bauer et al. (1977)</a> postulated a structural gene mutation, defective posttranslational modification of the enzyme, or a mutation in a gene regulating normal degradation of collagenase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=200924+190326+2537292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bauer, E. A., Eisen, A. Z. &lt;strong&gt;Recessive dystrophic epidermolysis bullosa: evidence for increased collagenase as a genetic characteristic in cell culture.&lt;/strong&gt; J. Exp. Med. 148: 1378-1387, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/214508/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;214508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.148.5.1378&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="214508">Bauer and Eisen (1978)</a> observed enhanced collagenase production by cultured skin fibroblasts in 8 of 10 patients with autosomal recessive dystrophic epidermolysis bullosa. Increased levels of immunoreactive collagenase were found in unaffected and affected areas of the skin. However, <a href="#56" class="mim-tip-reference" title="Winberg, J.-O., Gedde-Dahl, T., Jr., Bauer, E. A. &lt;strong&gt;Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; J. Invest. Derm. 92: 82-85, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2535863/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2535863&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep13071274&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2535863">Winberg et al. (1989)</a> found collagenase overexpression in only 4 of 18 RDEB patients. <a href="#8" class="mim-tip-reference" title="Bauer, E. A., Ludman, M. D., Goldberg, J. D., Berkowitz, R. L., Holbrook, K. A. &lt;strong&gt;Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker.&lt;/strong&gt; J. Invest. Derm. 87: 597-601, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3021861/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3021861&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12455843&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3021861">Bauer et al. (1986)</a> found that enhanced expression of collagenase by fetal recessive dystrophic epidermolysis bullosa skin fibroblasts could serve as a biochemical adjunct and possibly an alternative to morphologic examination of tissue for antenatal diagnosis. Phenytoin, which was found to inhibit synthesis or secretion of collagenase, had been thought to be effective in the systemic treatment of RDEB (<a href="#5" class="mim-tip-reference" title="Bauer, E. A., Cooper, T. W., Tucker, D. R., Esterly, N. B. &lt;strong&gt;Phenytoin therapy of recessive dystrophic epidermolysis bullosa: clinical trial and proposed mechanism of action on collagenase.&lt;/strong&gt; New Eng. J. Med. 303: 776-781, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6251365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6251365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198010023031402&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6251365">Bauer et al., 1980</a>); however, in a controlled study, <a href="#12" class="mim-tip-reference" title="Caldwell-Brown, D., Stern, R. S., Lin, A. N., Carter, D. M., the Epidermolysis Bullosa Study Group. &lt;strong&gt;Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; New Eng. J. Med. 327: 163-167, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1608407/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1608407&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199207163270305&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1608407">Caldwell-Brown et al. (1992)</a> showed that it was without effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1608407+214508+3021861+2535863+6251365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Titeux, M., Pendaries, V., Tonasso, L., Decha, A., Bodemer, C., Hovnanian, A. &lt;strong&gt;A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; Hum. Mutat. 29: 267-276, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18030675/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18030675&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20647&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18030675">Titeux et al. (2008)</a> found a significant association between a polymorphism (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1799750;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1799750</a>) in the MMP1 gene (<a href="/entry/120353#0001">120353.0001</a>) and disease severity in 3 affected members of an RDEB family who were discordant for the SNP. The observations were confirmed in a cohort of 31 unrelated French RDEB patients: the functional SNP resulting in increased collagenase activity was associated with more severe phenotype (p = 6.27 x 10(-5)). <a href="#50" class="mim-tip-reference" title="Titeux, M., Pendaries, V., Tonasso, L., Decha, A., Bodemer, C., Hovnanian, A. &lt;strong&gt;A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; Hum. Mutat. 29: 267-276, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18030675/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18030675&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20647&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18030675">Titeux et al. (2008)</a> concluded that increased MMP1 leads to increased collagen degradation and worsening disease severity, suggesting that MMP1 is a modifier gene in RDEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18030675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<p><a href="#53" class="mim-tip-reference" title="van den Akker, P. C., Mellerio, J. E., Martinez, A. E., Liu, L., Meijer, R., Dopping-Hepenstal, P. J. C., van Essen, A. J., Scheffer, H., Hofstra, R. M. W., McGrath, J. A., Jonkman, M. F. &lt;strong&gt;The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.&lt;/strong&gt; J. Med. Genet. 48: 160-167, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21113014/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21113014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2010.082230&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21113014">Van den Akker et al. (2011)</a> reviewed the 29 known full genotypes associated with RDEB inversa from their study and the literature and found that the functional genotype in the disorder is a homozygous, compound heterozygous, or hemizygous missense mutation within the triple helical domain of COL7A1. Of the 19 known missense mutations, all involved substitutions of arginine or glycine. Three of the 5 arginine substitutions (e.g., R2063G) and 9 of the 14 glycine substitutions (e.g., G1907E) were specific to the inversa form of RDEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21113014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalManagement" class="mim-anchor"></a>
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<p><strong><em>Gene Therapy</em></strong></p><p>
<a href="#13" class="mim-tip-reference" title="Chen, M., Kasahara, N., Keene, D. R., Chan, L., Hoeffler, W. K., Finlay, D., Barcova, M., Cannon, P. M., Mazurek, C., Woodley, D. T. &lt;strong&gt;Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.&lt;/strong&gt; Nature Genet. 32: 670-675, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12426566/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12426566&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12426566">Chen et al. (2002)</a> delivered and expressed full-length COL7A1 to human skin cells in cell culture using a self-inactivating minimal lentivirus-based vector. Transduction of lentiviral vectors containing the COL7A1 transgene into keratinocytes and fibroblasts from patients with RDEB and absence of type VII collagen resulted in persistent synthesis and secretion of type VII collagen. Unlike parent cells from these patients, the gene-corrected cells had normal morphology, proliferative potential, matrix attachment, and motility. <a href="#13" class="mim-tip-reference" title="Chen, M., Kasahara, N., Keene, D. R., Chan, L., Hoeffler, W. K., Finlay, D., Barcova, M., Cannon, P. M., Mazurek, C., Woodley, D. T. &lt;strong&gt;Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.&lt;/strong&gt; Nature Genet. 32: 670-675, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12426566/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12426566&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12426566">Chen et al. (2002)</a> used these gene-corrected cells to regenerate human skin on immune-deficient mice. Human skin regenerated by gene-corrected cells had restored expression of type VII collagen and formation of anchoring fibrils at the dermal-epidermal junction in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12426566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Ortiz-Urda, S., Thyagarajan, B., Keene, D. R., Lin, Q., Fang, M., Calos, M. P., Khavari, P. A. &lt;strong&gt;Stable nonviral genetic correction of inherited human skin disease.&lt;/strong&gt; Nature Med. 8: 1166-1170, 2002. Note: Erratum: Nature Med. 9: 237 only, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12244305/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12244305&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm766&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12244305">Ortiz-Urda et al. (2002)</a> found that bacteriophage integrase-based gene transfer stably integrated the COL7A1 cDNA into genomes of primary cultured epidermal progenitor cells from 4 unrelated RDEB patients. Skin regenerated using these cells displayed stable correction of hallmark RDEB disease features, including type VII collagen protein expression, anchoring fibril formation, and dermal-epidermal cohesion. <a href="#35" class="mim-tip-reference" title="Ortiz-Urda, S., Lin, Q., Green, C. L., Keene, D. R., Marinkovich, M. P., Khavari, P. A. &lt;strong&gt;Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue.&lt;/strong&gt; J. Clin. Invest. 111: 251-255, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12531881/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12531881&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12531881[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI17193&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12531881">Ortiz-Urda et al. (2003)</a> stably transfected recessive dystrophic epidermolysis bullosa fibroblasts with a plasmid encoding human COL7A1 cDNA, which led to the expression of type VII collagen protein at a level quantitatively higher than that of normal keratinocytes. Intradermal injection of these RDEB(+) cells into intact mouse skin resulted in correct localization of human type VII collagen to the epidermal-dermal basement membrane zone. This expression was stable for the 16-week duration of the experiment. Injection of RDEB(+) fibroblasts into RDEB human skin tissue regenerated on immune-deficient mice restored type VII collagen at the cutaneous basement membrane zone and corrected subepidermal blistering. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12531881+12244305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Wagner, J. E., Ishida-Yamamoto, A., McGrath, J. A., Hordinsky, M., Keene, D. R., Woodley, D. T., Chen, M., Riddle, M. J., Osborn, M. J., Lund, T., Dolan, M., Blazar, B. R., Tolar, J. &lt;strong&gt;Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; New Eng. J. Med. 363: 629-639, 2010. Note: Erratum: New Eng. J. Med. 363: 1383 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20818854/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20818854&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20818854[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa0910501&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20818854">Wagner et al. (2010)</a> reported the results of allogeneic hematopoietic stem-cell transplantation after immunomyeloablative chemotherapy in 6 children with autosomal recessive dystrophic epidermolysis bullosa. They showed variable reductions in blister formation between 30 and 130 days after transplantation. Two patients had rapid and substantial clinical improvement, 1 had slow improvement with only a modest overall benefit, 1 had rapid improvement on short-term follow-up, and 1 had a recurrence of blistering after an early period of almost no blistering. One recipient died at 183 days after transplant from graft rejection and infection. Skin biopsies showed a substantial proportion of donor cells in the skin and mucosa. The cells appeared to be hematopoietic in origin, but their identity could not be fully determined. The authors suggested that the donor cells secreted type VII collagen that was subsequently incorporated into the lamina densa. Type VII collagen deposition could be detected in skin biopsies after treatment, but anchoring fibrils never appeared normal. <a href="#55" class="mim-tip-reference" title="Wagner, J. E., Ishida-Yamamoto, A., McGrath, J. A., Hordinsky, M., Keene, D. R., Woodley, D. T., Chen, M., Riddle, M. J., Osborn, M. J., Lund, T., Dolan, M., Blazar, B. R., Tolar, J. &lt;strong&gt;Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.&lt;/strong&gt; New Eng. J. Med. 363: 629-639, 2010. Note: Erratum: New Eng. J. Med. 363: 1383 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20818854/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20818854&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20818854[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa0910501&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20818854">Wagner et al. (2010)</a> emphasized that bone marrow transplantation is a high-risk procedure, but noted that it may offer some benefits to patients with autosomal recessive dystrophic epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 31 patients with a clinical diagnosis of dystrophic epidermolysis bullosa (DEB), 30 of whom had recessive disease (RDEB), <a href="#23" class="mim-tip-reference" title="Guide, S. V., Gonzalez, M. E., Bagci, I. S., Agostini, B., Chen, H., Feeney, G., Steimer, M., Kapadia, B., Sridhar, K., Quesada Sanchez, L., Gonzalez, F., Van Ligten, M., Parry, T. J., Chitra, S., Kammerman, L. A., Krishnan, S., Marinkovich, M. P. &lt;strong&gt;Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa.&lt;/strong&gt; New Eng. J. Med. 387: 2211-2219, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/36516090/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;36516090&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa2206663&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="36516090">Guide et al. (2022)</a> analyzed healing of primary wound pairs, one treated with topical B-VEC (beremagene geperpavec), an investigational herpes simplex virus type 1-based gene therapy delivering COL7A1, and the other treated with placebo. At 6 months, the authors observed complete wound healing in 67% of B-VEC-treated wounds compared to 22% of those treated with placebo (p = 0.002). Complete wound healing at 3 months occurred in 71% of the B-VEC-treated wounds compared to 20% of those exposed to placebo (p less than 0.001). In the 1 patient with dominant disease (DDEB), the wound treated with B-VEC showed complete healing at 6 months, whereas the placebo-treated wound did not. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36516090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the family with 3 affected sibs in which linkage studies excluded the involvement of the collagenase locus on 11q22, <a href="#27" class="mim-tip-reference" title="Hovnanian, A., Duquesnoy, P., Amselem, S., Blanchet-Bardon, C., Lathrop, M., Dubertret, L., Goossens, M. &lt;strong&gt;Exclusion linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.&lt;/strong&gt; J. Clin. Invest. 88: 1716-1721, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1658051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1658051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI115489&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1658051">Hovnanian et al. (1991)</a> found high levels of collagenase mRNA in only 2 of the 3 affected sibs, suggesting that it was not the primary defect in that family. By linkage studies, <a href="#17" class="mim-tip-reference" title="Colombi, M., Gardella, R., Zoppi, N., Moro, L., Marini, D., Spurr, N. K., Barlati, S. &lt;strong&gt;Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.&lt;/strong&gt; Hum. Genet. 89: 503-507, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1353052/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1353052&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00219174&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1353052">Colombi et al. (1992)</a> also excluded the interstitial collagenase gene as the one responsible for severe generalized recessive epidermolysis bullosa dystrophica. They also excluded stromelysin I (MMP3; <a href="/entry/185250">185250</a>) and stromelysin II (MMP10; <a href="/entry/185260">185260</a>). The same family had other members affected with a form of cerebellar ataxia of postpubertal onset. The 3 genes, as well as fibronectin (FN1; <a href="/entry/135600">135600</a>) on chromosome 2, were excluded as being involved in both phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1353052+1658051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an inbred breed of golden retriever dogs with RDEB and aberrant expression of collagen type VII reported by <a href="#37" class="mim-tip-reference" title="Palazzi, X., Marchal, T., Chabanne, L., Spadafora, A., Magnol, J.-P., Meneguzzi, G. &lt;strong&gt;Inherited dystrophic epidermolysis bullosa in inbred dogs: a spontaneous animal model for somatic gene therapy.&lt;/strong&gt; J. Invest. Derm. 115: 135-137, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10886525/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10886525&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1747.2000.00031-5.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10886525">Palazzi et al. (2000)</a>, <a href="#3" class="mim-tip-reference" title="Baldeschi, C., Gache, Y., Rattenholl, A., Bouille, P., Danos, O., Ortonne, J.-P., Bruckner-Tuderman, L., Meneguzzi, G. &lt;strong&gt;Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors.&lt;/strong&gt; Hum. Molec. Genet. 12: 1897-1905, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12874109/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12874109&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12874109">Baldeschi et al. (2003)</a> isolated and analyzed the 9-kb dog COL7A1 cDNA and identified a 5716G-A transition in exon 68, resulting in a gly1906-to-ser (G1906S) substitution at a conserved residue. Highly efficient transfer of the wildtype COL7A1 cDNA to both dog RDEB and human primary RDEB COL7A1-null keratinocytes, using recombinant retrovirus vectors, achieved sustained and permanent expression of the transgene product. The expression and posttranslational modification profile of the recombinant collagen type VII was comparable to that of the wildtype counterpart. The recombinant canine collagen type VII in human RDEB keratinocytes and dog cells corrected the observable defects caused by RDEB keratinocytes in cell cultures and in vitro reconstructed skin. <a href="#3" class="mim-tip-reference" title="Baldeschi, C., Gache, Y., Rattenholl, A., Bouille, P., Danos, O., Ortonne, J.-P., Bruckner-Tuderman, L., Meneguzzi, G. &lt;strong&gt;Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors.&lt;/strong&gt; Hum. Molec. Genet. 12: 1897-1905, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12874109/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12874109&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12874109">Baldeschi et al. (2003)</a> concluded that not only infection efficiency but also high expression levels may be required to ensure therapeutic efficacy in the presence of mutated gene products. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12874109+10886525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Fritsch, A., Loeckermann, S., Kern, J. S., Braun, A., Bosl, M. R., Bley, T. A., Schumann, H., von Elverfeldt, D., Paul, D., Erlacher, M., von Rautenfeld, D. B., Hausser, I., Fassler, R., Bruckner-Tuderman, L. &lt;strong&gt;A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.&lt;/strong&gt; J. Clin. Invest. 118: 1669-1679, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18382769/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18382769&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18382769[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI34292&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18382769">Fritsch et al. (2008)</a> developed a transgenic mouse model with conditional inactivation of Col7a1 expression resulting in a Col7a1 hypomorphic animal expressing about 10% of normal Col7a1 levels. Homozygous mice appeared normal at birth, but developed blisters on the paws by 24 to 48 hours after birth. Hypomorphic mice showed poor general condition resulting from poor nutrition and blisters of the tongue. A liquid diet resulted in increased survival. Mitten deformities of the paws were found to result from soft tissue accumulation and contraction due to aberrant fibrosis that accompanied wound healing. The phenotype resembled the human recessive disorder, including skin fragility, nail dystrophy, pseudosyndactyly, and growth retardation. Intradermal injection with wildtype fibroblasts restored Col7a1 deposition and function and resulted in phenotypic improvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18382769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Anton-Lamprecht1981" class="mim-tip-reference" title="Anton-Lamprecht, I. &lt;strong&gt;Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.&lt;/strong&gt; Hum. Genet. 59: 392-405, 1981.">Anton-Lamprecht (1981)</a>; <a href="#Book1952" class="mim-tip-reference" title="Book, J. A. &lt;strong&gt;Frequence de mutation de la chondrodystrophie et de l&#x27;epidermolyse bulleuse dans une population du sud de la Suede.&lt;/strong&gt; J. Genet. Hum. 1: 24-26, 1952.">Book (1952)</a>; <a href="#Davison1965" class="mim-tip-reference" title="Davison, B. C. C. &lt;strong&gt;Epidermolysis bullosa.&lt;/strong&gt; J. Med. Genet. 2: 233-242, 1965.">Davison (1965)</a>; <a href="#Didolkar1974" class="mim-tip-reference" title="Didolkar, M. S., Gerner, R. E., Moore, G. E. &lt;strong&gt;Epidermolysis bullosa dystrophica and epithelioma of the skin: review of published cases and report of an additional patient.&lt;/strong&gt; Cancer 33: 198-202, 1974.">Didolkar et al.
(1974)</a>; <a href="#Heinrichsbauer1928" class="mim-tip-reference" title="Heinrichsbauer, F. &lt;strong&gt;Ein weiterer Beitrag zur Frage angeborener Hautdefekte. (Ueber ein familiaeres letales Krankheitsbild mit Blasenbildung und angeborenen Defekten der Haut).&lt;/strong&gt; Arch. Gynak. 134: 673-692, 1928.">Heinrichsbauer (1928)</a>; <a href="#Kanan1977" class="mim-tip-reference" title="Kanan, M. W., Francis, M. J. O., Sykes, B., Reed, W. B., Ryan, T. J., van Diest, P., Marsden, A. &lt;strong&gt;Preponderance of lysosomal bodies in cultured fibroblasts from patients with recessive epidermolysis bullosa dystrophica: an electron microscopic study.&lt;/strong&gt; Brit. J. Derm. 96: 521-532, 1977.">Kanan et al. (1977)</a>; <a href="#Reed1974" class="mim-tip-reference" title="Reed, W. B., College, J., Jr., Francis, M. J. O., Zachariae, H., Mohs, F., Sher, M. A., Sneddon, I. B. &lt;strong&gt;Epidermolysis bullosa dystrophica with epidermal neoplasm.&lt;/strong&gt; Arch. Derm. 110: 894-902, 1974.">Reed et al.
(1974)</a>; <a href="#Robinson1946" class="mim-tip-reference" title="Robinson, M. M. &lt;strong&gt;Epidermolysis bullosa hereditaria.&lt;/strong&gt; Urol. Cutan. Rev. 50: 545-561, 1946.">Robinson (1946)</a>; <a href="#Sorsby1951" class="mim-tip-reference" title="Sorsby, A., Fraser Roberts, J. A., Brain, R. T. &lt;strong&gt;Essential shrinking of conjunctiva in hereditary affection allied to epidermolysis bullosa.&lt;/strong&gt; Doc. Ophthal. 5-6: 118-150, 1951.">Sorsby et al. (1951)</a>; <a href="#Sorsby1953" class="mim-tip-reference" title="Sorsby, A. &lt;strong&gt;Clinical Genetics.&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1953. P. 136.">Sorsby (1953)</a>; <a href="#Stricklin1982" class="mim-tip-reference" title="Stricklin, G. P., Welgus, H. G., Bauer, E. A. &lt;strong&gt;Human skin collagenase in recessive dystrophic epidermolysis bullosa: purification of a mutant enzyme from fibroblast cultures.&lt;/strong&gt; J. Clin. Invest. 69: 1373-1383, 1982.">Stricklin et al. (1982)</a>; <a href="#Thompson1980" class="mim-tip-reference" title="Thompson, J. W., Ahmed, A. R., Dudley, J. P. &lt;strong&gt;Epidermolysis bullosa dystrophica of the larynx and trachea: acute airway obstruction.&lt;/strong&gt; Ann. Otol. Rhinol. Laryng. 89: 428-429, 1980.">Thompson et al. (1980)</a>; <a href="#Tidman1984" class="mim-tip-reference" title="Tidman, M. J., Eady, R. A. J. &lt;strong&gt;Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters.&lt;/strong&gt; Brit. J. Derm. 111: 379-387, 1984.">Tidman and Eady
(1984)</a>
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<strong>REFERENCES</strong>
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<a id="Anton-Lamprecht1981" class="mim-anchor"></a>
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Anton-Lamprecht, I., Rauskolb, R., Jovanovic, V., Kern, B., Arnold, M.-L., Schenck, W.
<strong>Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin.</strong>
Lancet 318: 1077-1079, 1981. Note: Originally Volume 2.
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[<a href="https://doi.org/10.1016/s0140-6736(81)91278-2" target="_blank">Full Text</a>]
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<a id="Anton-Lamprecht1981" class="mim-anchor"></a>
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Anton-Lamprecht, I.
<strong>Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.</strong>
Hum. Genet. 59: 392-405, 1981.
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[<a href="https://doi.org/10.1007/BF00295479" target="_blank">Full Text</a>]
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<a id="Baldeschi2003" class="mim-anchor"></a>
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Baldeschi, C., Gache, Y., Rattenholl, A., Bouille, P., Danos, O., Ortonne, J.-P., Bruckner-Tuderman, L., Meneguzzi, G.
<strong>Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors.</strong>
Hum. Molec. Genet. 12: 1897-1905, 2003.
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[<a href="https://doi.org/10.1093/hmg/ddg200" target="_blank">Full Text</a>]
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<a id="Bass1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bass, H. N., Miranda, C., Oei, R., Crandall, B. F.
<strong>Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein.</strong>
Prenatal Diag. 13: 55-59, 1993.
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[<a href="https://doi.org/10.1002/pd.1970130108" target="_blank">Full Text</a>]
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<a id="Bauer1980" class="mim-anchor"></a>
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<p class="mim-text-font">
Bauer, E. A., Cooper, T. W., Tucker, D. R., Esterly, N. B.
<strong>Phenytoin therapy of recessive dystrophic epidermolysis bullosa: clinical trial and proposed mechanism of action on collagenase.</strong>
New Eng. J. Med. 303: 776-781, 1980.
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[<a href="https://doi.org/10.1056/NEJM198010023031402" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Bauer1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bauer, E. A., Eisen, A. Z.
<strong>Recessive dystrophic epidermolysis bullosa: evidence for increased collagenase as a genetic characteristic in cell culture.</strong>
J. Exp. Med. 148: 1378-1387, 1978.
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[<a href="https://doi.org/10.1084/jem.148.5.1378" target="_blank">Full Text</a>]
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<a id="Bauer1977" class="mim-anchor"></a>
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<p class="mim-text-font">
Bauer, E. A., Gedde-Dahl, T., Jr., Eisen, A. Z.
<strong>The role of human skin collagenase in epidermolysis bullosa.</strong>
J. Invest. Derm. 68: 119-124, 1977.
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[<a href="https://doi.org/10.1111/1523-1747.ep12492226" target="_blank">Full Text</a>]
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<a id="Bauer1986" class="mim-anchor"></a>
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Bauer, E. A., Ludman, M. D., Goldberg, J. D., Berkowitz, R. L., Holbrook, K. A.
<strong>Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker.</strong>
J. Invest. Derm. 87: 597-601, 1986.
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[<a href="https://doi.org/10.1111/1523-1747.ep12455843" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Bauer1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bauer, E. A.
<strong>Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures.</strong>
Proc. Nat. Acad. Sci. 74: 4646-4650, 1977.
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[<a href="https://doi.org/10.1073/pnas.74.10.4646" target="_blank">Full Text</a>]
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<a id="Book1952" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Book, J. A.
<strong>Frequence de mutation de la chondrodystrophie et de l'epidermolyse bulleuse dans une population du sud de la Suede.</strong>
J. Genet. Hum. 1: 24-26, 1952.
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<a id="Bourke1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bourke, J. F., Browne, G., Gaffney, E. F., Young, M.
<strong>Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa.</strong>
J. Am. Acad. Derm. 33: 370-372, 1995.
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[<a href="https://doi.org/10.1016/0190-9622(95)91436-6" target="_blank">Full Text</a>]
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<a id="Caldwell-Brown1992" class="mim-anchor"></a>
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Caldwell-Brown, D., Stern, R. S., Lin, A. N., Carter, D. M., the Epidermolysis Bullosa Study Group.
<strong>Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa.</strong>
New Eng. J. Med. 327: 163-167, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1608407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1608407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1608407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199207163270305" target="_blank">Full Text</a>]
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<a id="Chen2002" class="mim-anchor"></a>
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Chen, M., Kasahara, N., Keene, D. R., Chan, L., Hoeffler, W. K., Finlay, D., Barcova, M., Cannon, P. M., Mazurek, C., Woodley, D. T.
<strong>Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.</strong>
Nature Genet. 32: 670-675, 2002.
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[<a href="https://doi.org/10.1038/ng1041" target="_blank">Full Text</a>]
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<a id="Christiano1993" class="mim-anchor"></a>
<div class="">
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Christiano, A. M., Greenspan, D. S., Hoffman, G. G., Zhang, X., Tamai, Y., Lin, A. N., Dietz, H. C., Hovnanian, A., Uitto, J.
<strong>A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.</strong>
Nature Genet. 4: 62-66, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8513326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8513326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8513326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0593-62" target="_blank">Full Text</a>]
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<a id="Christiano1996" class="mim-anchor"></a>
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<p class="mim-text-font">
Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J.
<strong>Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.</strong>
Am. J. Hum. Genet. 58: 671-681, 1996.
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<a id="16" class="mim-anchor"></a>
<a id="Christiano1995" class="mim-anchor"></a>
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<p class="mim-text-font">
Christiano, A. M., Suga, Y., Greenspan, D. S., Ogawa, H., Uitto, J.
<strong>Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.</strong>
J. Clin. Invest. 95: 1328-1334, 1995.
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[<a href="https://doi.org/10.1172/JCI117783" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Colombi1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Colombi, M., Gardella, R., Zoppi, N., Moro, L., Marini, D., Spurr, N. K., Barlati, S.
<strong>Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.</strong>
Hum. Genet. 89: 503-507, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00219174" target="_blank">Full Text</a>]
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<a id="Davison1965" class="mim-anchor"></a>
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Davison, B. C. C.
<strong>Epidermolysis bullosa.</strong>
J. Med. Genet. 2: 233-242, 1965.
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[<a href="https://doi.org/10.1136/jmg.2.4.233" target="_blank">Full Text</a>]
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<a id="Destro1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Destro, M., Wallow, I. H. L., Brightbill, F. S.
<strong>Recessive dystrophic epidermolysis bullosa.</strong>
Arch. Ophthal. 105: 1248-1252, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3307723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3307723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3307723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1987.01060090106038" target="_blank">Full Text</a>]
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<a id="Didolkar1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Didolkar, M. S., Gerner, R. E., Moore, G. E.
<strong>Epidermolysis bullosa dystrophica and epithelioma of the skin: review of published cases and report of an additional patient.</strong>
Cancer 33: 198-202, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4810093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1097-0142(197401)33:1&lt;198::aid-cncr2820330129&gt;3.0.co;2-a" target="_blank">Full Text</a>]
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<a id="Fritsch2008" class="mim-anchor"></a>
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Fritsch, A., Loeckermann, S., Kern, J. S., Braun, A., Bosl, M. R., Bley, T. A., Schumann, H., von Elverfeldt, D., Paul, D., Erlacher, M., von Rautenfeld, D. B., Hausser, I., Fassler, R., Bruckner-Tuderman, L.
<strong>A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.</strong>
J. Clin. Invest. 118: 1669-1679, 2008.
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[<a href="https://doi.org/10.1172/JCI34292" target="_blank">Full Text</a>]
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<a id="Gedde-Dahl1971" class="mim-anchor"></a>
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Gedde-Dahl, T., Jr.
<strong>Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study.</strong>
Baltimore: Johns Hopkins Press (pub.) 1971. Pp. 117-119.
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<a id="Guide2022" class="mim-anchor"></a>
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Guide, S. V., Gonzalez, M. E., Bagci, I. S., Agostini, B., Chen, H., Feeney, G., Steimer, M., Kapadia, B., Sridhar, K., Quesada Sanchez, L., Gonzalez, F., Van Ligten, M., Parry, T. J., Chitra, S., Kammerman, L. A., Krishnan, S., Marinkovich, M. P.
<strong>Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa.</strong>
New Eng. J. Med. 387: 2211-2219, 2022.
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[<a href="https://doi.org/10.1056/NEJMoa2206663" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1995.tb02716.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI115489" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12605893" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0190-9622(95)91434-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI17193" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.2000.00031-5.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.1999.00713.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/jci110577" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/000348948008900510" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Tidman, M. J., Eady, R. A. J.
<strong>Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters.</strong>
Brit. J. Derm. 111: 379-387, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6487542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6487542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6487542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2133.1984.tb06599.x" target="_blank">Full Text</a>]
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<a id="Titeux2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Titeux, M., Pendaries, V., Tonasso, L., Decha, A., Bodemer, C., Hovnanian, A.
<strong>A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.</strong>
Hum. Mutat. 29: 267-276, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18030675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18030675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18030675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20647" target="_blank">Full Text</a>]
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<a id="Travis1992" class="mim-anchor"></a>
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Travis, S. P. L., McGrath, J. A., Turnbull, A. J., Schofield, O. M., Chan, O., O'Connor, A. F., Mayou, B., Eady, R. A. J., Thompson, R. P. H.
<strong>Oral and gastrointestinal manifestations of epidermolysis bullosa.</strong>
Lancet 340: 1505-1506, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0140-6736(92)92759-9" target="_blank">Full Text</a>]
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<a id="Uitto1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Uitto, J., Ryynanen, M., Christiano, A. M., Hovnanian, A., Frantz, R., Bauer, E. A., Knowlton, R. G.
<strong>Genetic linkage of the type VII collagen gene (COL7A1) to dominant dystrophic epidermolysis bullosa (DDEB) in families with abnormal anchoring fibrils. (Abstract)</strong>
Clin. Res. 40: 188A, 1992.
</p>
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<a id="van den Akker2011" class="mim-anchor"></a>
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van den Akker, P. C., Mellerio, J. E., Martinez, A. E., Liu, L., Meijer, R., Dopping-Hepenstal, P. J. C., van Essen, A. J., Scheffer, H., Hofstra, R. M. W., McGrath, J. A., Jonkman, M. F.
<strong>The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.</strong>
J. Med. Genet. 48: 160-167, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21113014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21113014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21113014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2010.082230" target="_blank">Full Text</a>]
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<a id="Varki2007" class="mim-anchor"></a>
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Varki, R., Sadowski, S., Uitto, J., Pfendner, E.
<strong>Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.</strong>
J. Med. Genet. 44: 181-192, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16971478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16971478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2006.045302" target="_blank">Full Text</a>]
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<a id="Wagner2010" class="mim-anchor"></a>
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Wagner, J. E., Ishida-Yamamoto, A., McGrath, J. A., Hordinsky, M., Keene, D. R., Woodley, D. T., Chen, M., Riddle, M. J., Osborn, M. J., Lund, T., Dolan, M., Blazar, B. R., Tolar, J.
<strong>Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.</strong>
New Eng. J. Med. 363: 629-639, 2010. Note: Erratum: New Eng. J. Med. 363: 1383 only, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818854</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20818854[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa0910501" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
<a id="Winberg1989" class="mim-anchor"></a>
<div class="">
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Winberg, J.-O., Gedde-Dahl, T., Jr., Bauer, E. A.
<strong>Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa.</strong>
J. Invest. Derm. 92: 82-85, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2535863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2535863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2535863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/1523-1747.ep13071274" target="_blank">Full Text</a>]
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<a id="Wright1993" class="mim-anchor"></a>
<div class="">
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Wright, J. T., Fine, J.-D., Johnson, L. B., Steinmetz, T. T.
<strong>Oral involvement of recessive dystrophic epidermolysis bullosa inversa.</strong>
Am. J. Med. Genet. 47: 1184-1188, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8291553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8291553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8291553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320470811" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/14/2023
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Jumana Al-Aama - updated : 9/5/2013<br>Marla J. F. O'Neill - updated : 8/11/2011<br>Cassandra L. Kniffin - updated : 9/20/2010<br>Cassandra L. Kniffin - updated : 7/1/2008<br>Cassandra L. Kniffin - reorganized : 5/20/2008<br>Cassandra L. Kniffin - updated : 5/16/2008<br>Marla J. F. O'Neill - updated : 6/13/2007<br>George E. Tiller - updated : 5/5/2005<br>Denise L. M. Goh - updated : 4/21/2003<br>Victor A. McKusick - updated : 3/20/2003
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Victor A. McKusick : 6/3/1986
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carol : 02/24/2025
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<h3>
<span class="mim-font">
<strong>#</strong> 226600
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<span class="mim-font">
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<span class="mim-font">
DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE<br />
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1<br />
EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE
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Other entities represented in this entry:
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<span class="h3 mim-font">
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED
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<span class="h4 mim-font">
EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED
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<strong>SNOMEDCT:</strong> 48528004; &nbsp;
<strong>ORPHA:</strong> 79408, 79409; &nbsp;
<strong>DO:</strong> 0060642; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
3p21.31
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<td>
<span class="mim-font">
Epidermolysis bullosa dystrophica, autosomal recessive
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<span class="mim-font">
226600
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<td>
<span class="mim-font">
Autosomal recessive
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<span class="mim-font">
3
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<span class="mim-font">
COL7A1
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<span class="mim-font">
120120
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<span class="mim-font">
3p21.31
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<span class="mim-font">
Epidermolysis bullosa dystrophica inversa
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<span class="mim-font">
226600
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<span class="mim-font">
Autosomal recessive
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<span class="mim-font">
3
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<span class="mim-font">
COL7A1
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<span class="mim-font">
120120
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<span class="mim-font">
3p21.31
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<span class="mim-font">
Epidermolysis bullosa dystrophica, localisata variant
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<span class="mim-font">
226600
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<span class="mim-font">
Autosomal recessive
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<span class="mim-font">
3
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<span class="mim-font">
COL7A1
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<span class="mim-font">
120120
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<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal recessive dystrophic epidermolysis bullosa (RDEB) and the RDEB localisata variant are caused by homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1; 120120) on chromosome 3p21.</p>
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<strong>Description</strong>
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<p>Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of the hands, feet, and joints. Patients also developed strictures of the gastrointestinal tract from mucosal involvement, which can lead to poor nutrition. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma (Christiano et al., 1996; Varki et al., 2007). </p><p>Allelic disorders include autosomal dominant DEB (DDEB; 131750), in which the phenotype is less severe, and nonsyndromic congenital nail disorder-8 (NDNC8; 607523), which has been found to segregate as an autosomal dominant trait in heterozygous carriers in some families with recessive DEB.</p>
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<strong>Clinical Features</strong>
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<p>Christiano et al. (1995) reported 3 Japanese brothers, aged 20, 16, and 13 years, with autosomal recessive DEB. All had extreme fragility of the skin since birth. The skin involvement led to extensive mutilating scarring, loss of nails, fusion of the digits, and joint contractures. The patients also had blistering of the mucous membranes in the oral cavity and esophageal strictures that caused severe malnutrition and anemia, which led to death in the oldest brother at age 21 years. Skin biopsies showed subbasal lamina dermal-epidermal separation with no anchoring fibrils. </p><p>Christiano et al. (1996) reported 4 unrelated families in which 5 individuals had autosomal recessive DEB. Two of the families were consanguineous. All presented at birth or soon after with skin blistering on the fingers, lips, oral mucosa, and ears, which later became widespread. Older patients had multiple erosions, scarring, mitten deformities of the hands from fusion, and joint contractures. Other features included loss of nails and esophageal strictures. Electron microscopy showed hypoplastic anchoring fibrils and cleavage at the level of the sublamina densa, consistent with dystrophic EB. One patient had skin missing from the left thumb and both feet at birth, showing phenotypic overlap with Bart syndrome (132000). Obligate heterozygous parents were clinically unaffected. </p><p><strong><em>Recessive Dystrophic Epidermolysis Bullosa Inversa</em></strong></p><p>
The inversa subtype of autosomal recessive dystrophic epidermolysis bullosa is a rare variant characterized by lesions involving primarily the flexural areas of the body with sparing of the fingers and toes (Wright et al., 1993). Gedde-Dahl (1971) first described EBD inversa in 13 patients from 6 Norwegian families and noted the difference in distribution of skin involvement and in the course of the disease, including corneal, perianal and perivulvar involvement, compared to the Hallopeau-Siemens type of DEB. Hashimoto et al. (1976) described the disorder in 2 sisters. </p><p>Pearson and Paller (1988) described 4 American patients with DEB inversa and emphasized the occurrence of severe oral and esophageal mucosal involvement. Fingernails were normal or minimally involved, whereas toenails were mildly to moderately dystrophic or atrophic. The microscopic changes were said to be similar to those of the Hallopeau-Siemens form of epidermolysis bullosa. </p><p>Wright et al. (1993) reported 10 patients with RDEB inversa in whom the diagnosis was confirmed by tissue separation below the lamina densa and the clinical presentation of blister formation that typically localized to flexural areas. Although there was clinical variability in the severity and distribution of skin involvement, none of the patients showed pronounced digital webbing, severe generalized blistering, or growth retardation characteristic of Hallopeau-Siemens DEB. All patients had oral involvement, including ankyloglossia, loss of tongue papillae, and obliteration of the oral vestibule between the lips and gingiva. The oral opening was significantly reduced in older patients compared to controls. The teeth were not clinically abnormal or malformed and showed no evidence of generalized enamel hypoplasia. Wright et al. (1993) concluded that the inversa form of RDEB presents with oral findings that are similar to but milder than those seen in the Hallopeau-Siemens variant. </p><p>Hovnanian et al. (1994) reported 2 unrelated patients with recessive DEB inversa. An 11-year-old girl had neck, axilla, groin, and oral blistering with sparing of the hands and feet as well as sparing of the rest of the body. She had had severe and recurrent esophageal stenosis. The other patient had a similar clinical course. Skin biopsies of both patients showed cleavage beneath the lamina densa, absence of normal anchoring fibrils, and small numbers of rudimentary fibrils on electron microscopy. </p><p>Lin et al. (1995) reported 2 cases of dystrophic epidermolysis bullosa inversa. One patient had finger web scarring that required surgical correction and also had mild syndactyly of toes. The parents of one of the patients were cousins. </p>
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<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Destro et al. (1987) reported a 40-year-old woman with recessive DEB and ocular manifestations. She presented with lid ulcerations, chronic conjunctivitis, diffuse subepithelial corneal scarring, corneal ulceration, and cataracts. Management with intensive lubricant therapy, soft-bandage contact lenses, and cataract extraction successfully restored her sight. Histologic examination via light and electron microscopy revealed blister formation and scarring beneath the epithelial basement membrane of both the skin and cornea, confirming the diagnosis of RDEB. Other features included fusion of all fingers and toes into mittenlike deformities and severe contractures of all 4 limbs. She had survived a spontaneous esophageal perforation and had had 15 squamous cell carcinomas removed from the limbs. A similarly affected sister died at the age of 26 years from metastatic squamous cell carcinoma. </p><p>On the basis of an analysis of 246 patients with epidermolysis bullosa of various types, Travis et al. (1992) reported that dysphagia developed in 76% of those with recessive dystrophic EB, in 20% of those with dominant dystrophic EB, in 15% of those with junctional EB (see, e.g., 226700), and in 2% of those with simplex forms (see, e.g., 131950). Lingual adhesions or microstomia occurred in dystrophic epidermolysis bullosa only, and were 8 times more common in the recessive form than in the dominant form. These lesions were provoked by the trauma of eating and reduced food intake, which exacerbated constipation caused by anal blisters and resulted in malnutrition. Stricture of the esophagus was frequent, with single or multiple esophageal webs. </p><p>Bass et al. (1993) described a prematurely born female with this disorder whose mother had strikingly elevated mid-trimester serum and amniotic fluid concentrations of alpha-fetoprotein (AFP; 104150), a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. </p><p>Bourke et al. (1995) observed fatal systemic amyloidosis in 2 sisters with recessive DEB. One was 22 years old when the diagnosis of amyloidosis was made. Despite rapidly deteriorating renal function, dialysis was deemed impossible because of her extensive cutaneous infection. The older sister had negative findings of a search for amyloidosis at the age of 26 years. Although her skin disease was equally as severe as her sister's, she did not develop amyloid nephropathy until the age of 35 years. </p><p>On the basis of an analysis of 246 patients with epidermolysis bullosa, Melville et al. (1996) reported 2 unrelated children with autosomal recessive dystrophic EB who developed fatal dilated cardiomyopathy. Both were malnourished and showed severely retarded growth. The authors suggested that the likely cause for the cardiomyopathy was a micronutrient deficiency, most probably selenium deficiency, because the serum selenium level was reduced in the case in which they measured it, and also in 14 of 25 other children with dystrophic epidermolysis bullosa. Echocardiographic screening of 18 other patients with recessive dystrophic epidermolysis bullosa showed no evidence of cardiomyopathy. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Anton-Lamprecht et al. (1981) achieved prenatal diagnosis of the Hallopeau-Siemens type of epidermolysis bullosa dystrophica by inspection of the skin through the fetoscope, confirmed by electron microscopic examination of a skin biopsy. </p><p>Hovnanian et al. (1995) used COL7A1 gene analysis for successful first-trimester prenatal diagnosis in 6 families at risk for recurrence of generalized recessive DEB. The disorder was of the severe Hallopeau-Siemens form in 5 families and the generalized nonmutilating form in 1. In all cases analysis of fetal DNA from amniotic fluid cells showed that the fetus had inherited at least one normal COL7A1 allele. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hovnanian et al. (1992) demonstrated linkage between a PvuII polymorphic site in the COL7A1 gene on chromosome 3p21 and recessive dystrophic epidermolysis bullosa in 19 informative families (maximum lod score of 3.95).</p><p>Ryynanen et al. (1991) and Uitto et al. (1992) demonstrated linkage between a PvuII RFLP of the COL7A1 gene and dominant DEB, suggesting that the autosomal dominant and autosomal recessive disorders are due to mutations in the same gene. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In an African American family in which 4 individuals related as first cousins once removed had autosomal recessive epidermolysis bullosa dystrophica, Christiano et al. (1993) identified a homozygous mutation in the COL7A1 gene (M2798K; 120120.0001). The unaffected mother and half brother were heterozygous for the mutation. </p><p>In 3 Japanese brothers with autosomal recessive DEB, Christiano et al. (1995) found compound heterozygosity for 2 truncating mutations in the COL7A1 gene (120120.0005; 120120.0006). The unaffected parents were each heterozygous for 1 of the mutations. </p><p>Christiano et al. (1996) identified glycine substitution mutations in the COL7A1 gene in affected members of 4 unrelated families with RDEB. Two families were compound heterozygous for a glycine substitution and a premature termination mutation (see, e.g., 120120.0036; 120120.0037), whereas the other 2 families were homozygous for a glycine substitution (see, e.g., 120120.0038). In all 4 recessive families, the glycine substitution mutation was silent in heterozygous carriers who had no disease manifestations. Christiano et al. (1996) stated that the COL7A1 gene is thus unique among the collagen genes in that different glycine substitutions can be either silent in heterozygotes or can result in a dominantly inherited DEB. Inspection of the location of the glycine substitutions did not show a positional effect in terms of phenotype or pattern of inheritance. </p><p>In a patient with RDEB previously reported by Hatta et al. (1995), Shimizu et al. (1999) identified compound heterozygosity for 2 mutations in the COL7A1 gene G2316R (120120.0042) and G2287R (120120.0023). Heterozygous carriers of the G2287R allele had normal skin but isolated toenail dystrophy, also called nonsyndromic congenital nail dystrophy-8 (NDNC8; 607523). </p><p>Sato-Matsumura et al. (2002) studied 2 unrelated Japanese families with RDEB in which isolated toenail dystrophy also segregated as an autosomal dominant trait. In family members with dystrophic changes limited to the toenails but without skin fragility, they identified heterozygosity for the glycine substitutions G1595R (120120.0024) and G1815R (120120.0025), respectively. The patients with RDEB in each family were compound heterozygous for 1 of these mutations, respectively, in combination with a nonsense (120120.0043) or frameshift mutation (120120.0006) in COL7A1. These results supported the idea that certain glycine substitutions in the collagenous domain of COL7A1 cause a limited nail deformity, and that these alleles can also contribute to variable degrees of skin fragility when present in combination with nonsense or frameshift mutations in COL7A1. </p><p>Varki et al. (2007) analyzed the COL7A1 gene in 310 patients with dystrophic epidermolysis bullosa. Mutations were found in 1 or both alleles in 243 (78.4%) patients, comprising 355 mutant alleles of the anticipated 438 (81.1%) mutant alleles. The authors reviewed the spectrum of COL7A1 mutation and genotype-phenotype correlations, noting that patients with severe recessive DEB tended to have truncating mutations, whereas those with milder dominant DEB tended to have glycine substitutions. Seven patients had features of both dominant and recessive forms of disease and were found to carry both dominant and recessive mutations. </p><p>In 2 unrelated patients, one with recessive DEB inversa and another with classic RDEB, Hovnanian et al. (1994) identified a heterozygous mutation in the COL7A1 gene (R109X; 120120.0040). Although a second pathogenic mutation was not identified, the authors presenting convincing evidence that the disorder was recessive in both cases. </p><p>In 2 brothers with recessive DEB inversa, Kahofer et al. (2003) identified compound heterozygosity for 2 mutations in the COL7A1 gene (120120.0041; 120120.0045). </p><p><strong><em>Modifier Genes</em></strong></p><p>
A defect in collagenase (MMP1; 120353) was implicated early on in the pathogenesis of dystrophic epidermolysis bullosa. Type VII collagen is susceptible to degradation by collagenase (Seltzer et al., 1989). Bauer (1977) found that procollagenase purified from fibroblasts of 2 patients with DEB was more thermolabile, showed decreased calcium affinity, and had decreased activity in vitro compared to control values. Bauer et al. (1977) postulated a structural gene mutation, defective posttranslational modification of the enzyme, or a mutation in a gene regulating normal degradation of collagenase. </p><p>Bauer and Eisen (1978) observed enhanced collagenase production by cultured skin fibroblasts in 8 of 10 patients with autosomal recessive dystrophic epidermolysis bullosa. Increased levels of immunoreactive collagenase were found in unaffected and affected areas of the skin. However, Winberg et al. (1989) found collagenase overexpression in only 4 of 18 RDEB patients. Bauer et al. (1986) found that enhanced expression of collagenase by fetal recessive dystrophic epidermolysis bullosa skin fibroblasts could serve as a biochemical adjunct and possibly an alternative to morphologic examination of tissue for antenatal diagnosis. Phenytoin, which was found to inhibit synthesis or secretion of collagenase, had been thought to be effective in the systemic treatment of RDEB (Bauer et al., 1980); however, in a controlled study, Caldwell-Brown et al. (1992) showed that it was without effect. </p><p>Titeux et al. (2008) found a significant association between a polymorphism (rs1799750) in the MMP1 gene (120353.0001) and disease severity in 3 affected members of an RDEB family who were discordant for the SNP. The observations were confirmed in a cohort of 31 unrelated French RDEB patients: the functional SNP resulting in increased collagenase activity was associated with more severe phenotype (p = 6.27 x 10(-5)). Titeux et al. (2008) concluded that increased MMP1 leads to increased collagen degradation and worsening disease severity, suggesting that MMP1 is a modifier gene in RDEB. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Van den Akker et al. (2011) reviewed the 29 known full genotypes associated with RDEB inversa from their study and the literature and found that the functional genotype in the disorder is a homozygous, compound heterozygous, or hemizygous missense mutation within the triple helical domain of COL7A1. Of the 19 known missense mutations, all involved substitutions of arginine or glycine. Three of the 5 arginine substitutions (e.g., R2063G) and 9 of the 14 glycine substitutions (e.g., G1907E) were specific to the inversa form of RDEB. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Gene Therapy</em></strong></p><p>
Chen et al. (2002) delivered and expressed full-length COL7A1 to human skin cells in cell culture using a self-inactivating minimal lentivirus-based vector. Transduction of lentiviral vectors containing the COL7A1 transgene into keratinocytes and fibroblasts from patients with RDEB and absence of type VII collagen resulted in persistent synthesis and secretion of type VII collagen. Unlike parent cells from these patients, the gene-corrected cells had normal morphology, proliferative potential, matrix attachment, and motility. Chen et al. (2002) used these gene-corrected cells to regenerate human skin on immune-deficient mice. Human skin regenerated by gene-corrected cells had restored expression of type VII collagen and formation of anchoring fibrils at the dermal-epidermal junction in vivo. </p><p>Ortiz-Urda et al. (2002) found that bacteriophage integrase-based gene transfer stably integrated the COL7A1 cDNA into genomes of primary cultured epidermal progenitor cells from 4 unrelated RDEB patients. Skin regenerated using these cells displayed stable correction of hallmark RDEB disease features, including type VII collagen protein expression, anchoring fibril formation, and dermal-epidermal cohesion. Ortiz-Urda et al. (2003) stably transfected recessive dystrophic epidermolysis bullosa fibroblasts with a plasmid encoding human COL7A1 cDNA, which led to the expression of type VII collagen protein at a level quantitatively higher than that of normal keratinocytes. Intradermal injection of these RDEB(+) cells into intact mouse skin resulted in correct localization of human type VII collagen to the epidermal-dermal basement membrane zone. This expression was stable for the 16-week duration of the experiment. Injection of RDEB(+) fibroblasts into RDEB human skin tissue regenerated on immune-deficient mice restored type VII collagen at the cutaneous basement membrane zone and corrected subepidermal blistering. </p><p>Wagner et al. (2010) reported the results of allogeneic hematopoietic stem-cell transplantation after immunomyeloablative chemotherapy in 6 children with autosomal recessive dystrophic epidermolysis bullosa. They showed variable reductions in blister formation between 30 and 130 days after transplantation. Two patients had rapid and substantial clinical improvement, 1 had slow improvement with only a modest overall benefit, 1 had rapid improvement on short-term follow-up, and 1 had a recurrence of blistering after an early period of almost no blistering. One recipient died at 183 days after transplant from graft rejection and infection. Skin biopsies showed a substantial proportion of donor cells in the skin and mucosa. The cells appeared to be hematopoietic in origin, but their identity could not be fully determined. The authors suggested that the donor cells secreted type VII collagen that was subsequently incorporated into the lamina densa. Type VII collagen deposition could be detected in skin biopsies after treatment, but anchoring fibrils never appeared normal. Wagner et al. (2010) emphasized that bone marrow transplantation is a high-risk procedure, but noted that it may offer some benefits to patients with autosomal recessive dystrophic epidermolysis bullosa. </p><p>In 31 patients with a clinical diagnosis of dystrophic epidermolysis bullosa (DEB), 30 of whom had recessive disease (RDEB), Guide et al. (2022) analyzed healing of primary wound pairs, one treated with topical B-VEC (beremagene geperpavec), an investigational herpes simplex virus type 1-based gene therapy delivering COL7A1, and the other treated with placebo. At 6 months, the authors observed complete wound healing in 67% of B-VEC-treated wounds compared to 22% of those treated with placebo (p = 0.002). Complete wound healing at 3 months occurred in 71% of the B-VEC-treated wounds compared to 20% of those exposed to placebo (p less than 0.001). In the 1 patient with dominant disease (DDEB), the wound treated with B-VEC showed complete healing at 6 months, whereas the placebo-treated wound did not. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In the family with 3 affected sibs in which linkage studies excluded the involvement of the collagenase locus on 11q22, Hovnanian et al. (1991) found high levels of collagenase mRNA in only 2 of the 3 affected sibs, suggesting that it was not the primary defect in that family. By linkage studies, Colombi et al. (1992) also excluded the interstitial collagenase gene as the one responsible for severe generalized recessive epidermolysis bullosa dystrophica. They also excluded stromelysin I (MMP3; 185250) and stromelysin II (MMP10; 185260). The same family had other members affected with a form of cerebellar ataxia of postpubertal onset. The 3 genes, as well as fibronectin (FN1; 135600) on chromosome 2, were excluded as being involved in both phenotypes. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In an inbred breed of golden retriever dogs with RDEB and aberrant expression of collagen type VII reported by Palazzi et al. (2000), Baldeschi et al. (2003) isolated and analyzed the 9-kb dog COL7A1 cDNA and identified a 5716G-A transition in exon 68, resulting in a gly1906-to-ser (G1906S) substitution at a conserved residue. Highly efficient transfer of the wildtype COL7A1 cDNA to both dog RDEB and human primary RDEB COL7A1-null keratinocytes, using recombinant retrovirus vectors, achieved sustained and permanent expression of the transgene product. The expression and posttranslational modification profile of the recombinant collagen type VII was comparable to that of the wildtype counterpart. The recombinant canine collagen type VII in human RDEB keratinocytes and dog cells corrected the observable defects caused by RDEB keratinocytes in cell cultures and in vitro reconstructed skin. Baldeschi et al. (2003) concluded that not only infection efficiency but also high expression levels may be required to ensure therapeutic efficacy in the presence of mutated gene products. </p><p>Fritsch et al. (2008) developed a transgenic mouse model with conditional inactivation of Col7a1 expression resulting in a Col7a1 hypomorphic animal expressing about 10% of normal Col7a1 levels. Homozygous mice appeared normal at birth, but developed blisters on the paws by 24 to 48 hours after birth. Hypomorphic mice showed poor general condition resulting from poor nutrition and blisters of the tongue. A liquid diet resulted in increased survival. Mitten deformities of the paws were found to result from soft tissue accumulation and contraction due to aberrant fibrosis that accompanied wound healing. The phenotype resembled the human recessive disorder, including skin fragility, nail dystrophy, pseudosyndactyly, and growth retardation. Intradermal injection with wildtype fibroblasts restored Col7a1 deposition and function and resulted in phenotypic improvement. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Anton-Lamprecht (1981); Book (1952); Davison (1965); Didolkar et al.
(1974); Heinrichsbauer (1928); Kanan et al. (1977); Reed et al.
(1974); Robinson (1946); Sorsby et al. (1951); Sorsby (1953);
Stricklin et al. (1982); Thompson et al. (1980); Tidman and Eady
(1984)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Anton-Lamprecht, I., Rauskolb, R., Jovanovic, V., Kern, B., Arnold, M.-L., Schenck, W.
<strong>Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin.</strong>
Lancet 318: 1077-1079, 1981. Note: Originally Volume 2.
[PubMed: 6118526]
[Full Text: https://doi.org/10.1016/s0140-6736(81)91278-2]
</p>
</li>
<li>
<p class="mim-text-font">
Anton-Lamprecht, I.
<strong>Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.</strong>
Hum. Genet. 59: 392-405, 1981.
[PubMed: 7037606]
[Full Text: https://doi.org/10.1007/BF00295479]
</p>
</li>
<li>
<p class="mim-text-font">
Baldeschi, C., Gache, Y., Rattenholl, A., Bouille, P., Danos, O., Ortonne, J.-P., Bruckner-Tuderman, L., Meneguzzi, G.
<strong>Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors.</strong>
Hum. Molec. Genet. 12: 1897-1905, 2003.
[PubMed: 12874109]
[Full Text: https://doi.org/10.1093/hmg/ddg200]
</p>
</li>
<li>
<p class="mim-text-font">
Bass, H. N., Miranda, C., Oei, R., Crandall, B. F.
<strong>Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein.</strong>
Prenatal Diag. 13: 55-59, 1993.
[PubMed: 7680472]
[Full Text: https://doi.org/10.1002/pd.1970130108]
</p>
</li>
<li>
<p class="mim-text-font">
Bauer, E. A., Cooper, T. W., Tucker, D. R., Esterly, N. B.
<strong>Phenytoin therapy of recessive dystrophic epidermolysis bullosa: clinical trial and proposed mechanism of action on collagenase.</strong>
New Eng. J. Med. 303: 776-781, 1980.
[PubMed: 6251365]
[Full Text: https://doi.org/10.1056/NEJM198010023031402]
</p>
</li>
<li>
<p class="mim-text-font">
Bauer, E. A., Eisen, A. Z.
<strong>Recessive dystrophic epidermolysis bullosa: evidence for increased collagenase as a genetic characteristic in cell culture.</strong>
J. Exp. Med. 148: 1378-1387, 1978.
[PubMed: 214508]
[Full Text: https://doi.org/10.1084/jem.148.5.1378]
</p>
</li>
<li>
<p class="mim-text-font">
Bauer, E. A., Gedde-Dahl, T., Jr., Eisen, A. Z.
<strong>The role of human skin collagenase in epidermolysis bullosa.</strong>
J. Invest. Derm. 68: 119-124, 1977.
[PubMed: 190326]
[Full Text: https://doi.org/10.1111/1523-1747.ep12492226]
</p>
</li>
<li>
<p class="mim-text-font">
Bauer, E. A., Ludman, M. D., Goldberg, J. D., Berkowitz, R. L., Holbrook, K. A.
<strong>Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker.</strong>
J. Invest. Derm. 87: 597-601, 1986.
[PubMed: 3021861]
[Full Text: https://doi.org/10.1111/1523-1747.ep12455843]
</p>
</li>
<li>
<p class="mim-text-font">
Bauer, E. A.
<strong>Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures.</strong>
Proc. Nat. Acad. Sci. 74: 4646-4650, 1977.
[PubMed: 200924]
[Full Text: https://doi.org/10.1073/pnas.74.10.4646]
</p>
</li>
<li>
<p class="mim-text-font">
Book, J. A.
<strong>Frequence de mutation de la chondrodystrophie et de l&#x27;epidermolyse bulleuse dans une population du sud de la Suede.</strong>
J. Genet. Hum. 1: 24-26, 1952.
[PubMed: 12981239]
</p>
</li>
<li>
<p class="mim-text-font">
Bourke, J. F., Browne, G., Gaffney, E. F., Young, M.
<strong>Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa.</strong>
J. Am. Acad. Derm. 33: 370-372, 1995.
[PubMed: 7615888]
[Full Text: https://doi.org/10.1016/0190-9622(95)91436-6]
</p>
</li>
<li>
<p class="mim-text-font">
Caldwell-Brown, D., Stern, R. S., Lin, A. N., Carter, D. M., the Epidermolysis Bullosa Study Group.
<strong>Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa.</strong>
New Eng. J. Med. 327: 163-167, 1992.
[PubMed: 1608407]
[Full Text: https://doi.org/10.1056/NEJM199207163270305]
</p>
</li>
<li>
<p class="mim-text-font">
Chen, M., Kasahara, N., Keene, D. R., Chan, L., Hoeffler, W. K., Finlay, D., Barcova, M., Cannon, P. M., Mazurek, C., Woodley, D. T.
<strong>Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.</strong>
Nature Genet. 32: 670-675, 2002.
[PubMed: 12426566]
[Full Text: https://doi.org/10.1038/ng1041]
</p>
</li>
<li>
<p class="mim-text-font">
Christiano, A. M., Greenspan, D. S., Hoffman, G. G., Zhang, X., Tamai, Y., Lin, A. N., Dietz, H. C., Hovnanian, A., Uitto, J.
<strong>A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.</strong>
Nature Genet. 4: 62-66, 1993.
[PubMed: 8513326]
[Full Text: https://doi.org/10.1038/ng0593-62]
</p>
</li>
<li>
<p class="mim-text-font">
Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J.
<strong>Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.</strong>
Am. J. Hum. Genet. 58: 671-681, 1996.
[PubMed: 8644729]
</p>
</li>
<li>
<p class="mim-text-font">
Christiano, A. M., Suga, Y., Greenspan, D. S., Ogawa, H., Uitto, J.
<strong>Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.</strong>
J. Clin. Invest. 95: 1328-1334, 1995.
[PubMed: 7883979]
[Full Text: https://doi.org/10.1172/JCI117783]
</p>
</li>
<li>
<p class="mim-text-font">
Colombi, M., Gardella, R., Zoppi, N., Moro, L., Marini, D., Spurr, N. K., Barlati, S.
<strong>Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.</strong>
Hum. Genet. 89: 503-507, 1992.
[PubMed: 1353052]
[Full Text: https://doi.org/10.1007/BF00219174]
</p>
</li>
<li>
<p class="mim-text-font">
Davison, B. C. C.
<strong>Epidermolysis bullosa.</strong>
J. Med. Genet. 2: 233-242, 1965.
[PubMed: 5859028]
[Full Text: https://doi.org/10.1136/jmg.2.4.233]
</p>
</li>
<li>
<p class="mim-text-font">
Destro, M., Wallow, I. H. L., Brightbill, F. S.
<strong>Recessive dystrophic epidermolysis bullosa.</strong>
Arch. Ophthal. 105: 1248-1252, 1987.
[PubMed: 3307723]
[Full Text: https://doi.org/10.1001/archopht.1987.01060090106038]
</p>
</li>
<li>
<p class="mim-text-font">
Didolkar, M. S., Gerner, R. E., Moore, G. E.
<strong>Epidermolysis bullosa dystrophica and epithelioma of the skin: review of published cases and report of an additional patient.</strong>
Cancer 33: 198-202, 1974.
[PubMed: 4810093]
[Full Text: https://doi.org/10.1002/1097-0142(197401)33:1&lt;198::aid-cncr2820330129&gt;3.0.co;2-a]
</p>
</li>
<li>
<p class="mim-text-font">
Fritsch, A., Loeckermann, S., Kern, J. S., Braun, A., Bosl, M. R., Bley, T. A., Schumann, H., von Elverfeldt, D., Paul, D., Erlacher, M., von Rautenfeld, D. B., Hausser, I., Fassler, R., Bruckner-Tuderman, L.
<strong>A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.</strong>
J. Clin. Invest. 118: 1669-1679, 2008.
[PubMed: 18382769]
[Full Text: https://doi.org/10.1172/JCI34292]
</p>
</li>
<li>
<p class="mim-text-font">
Gedde-Dahl, T., Jr.
<strong>Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study.</strong>
Baltimore: Johns Hopkins Press (pub.) 1971. Pp. 117-119.
</p>
</li>
<li>
<p class="mim-text-font">
Guide, S. V., Gonzalez, M. E., Bagci, I. S., Agostini, B., Chen, H., Feeney, G., Steimer, M., Kapadia, B., Sridhar, K., Quesada Sanchez, L., Gonzalez, F., Van Ligten, M., Parry, T. J., Chitra, S., Kammerman, L. A., Krishnan, S., Marinkovich, M. P.
<strong>Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa.</strong>
New Eng. J. Med. 387: 2211-2219, 2022.
[PubMed: 36516090]
[Full Text: https://doi.org/10.1056/NEJMoa2206663]
</p>
</li>
<li>
<p class="mim-text-font">
Hashimoto, I., Anton-Lamprecht, I., Hofbauer, M.
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<strong>Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters.</strong>
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