4260 lines
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Entry
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- #226730 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B
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- OMIM
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<p>
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<span class="h4">#226730</span>
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<br />
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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/226730"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS226650"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA" 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><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11429&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1125/" title="Junctional Epidermolysis Bullosa" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Junctional Epidermolysis B…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1157/" title="Epidermolysis Bullosa with Pyloric Atresia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Epidermolysis Bullosa with…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/2585" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=226730[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79403" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0b419fde-4c28-4560-b99f-823fa8fc6bea/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>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060733" 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>
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<div><a href="http://www.informatics.jax.org/disease/226730" 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>
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<div><a href="https://omia.org/OMIA000340/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060733" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:226730" 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>
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<span>
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<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.">
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<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">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79403<br />
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<strong>DO:</strong> 0060733<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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226730
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B
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</span>
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</h3>
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<div>
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<em>Alternative titles; symbols</em>
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA<br />
|
|
EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA<br />
|
|
JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA<br />
|
|
JEB-PA<br />
|
|
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA<br />
|
|
EB-PA-ACC<br />
|
|
CARMI SYNDROME<br />
|
|
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
|
|
</span>
|
|
</h4>
|
|
</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/17/950?start=-3&limit=10&highlight=950">
|
|
17q25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermolysis bullosa, junctional 5B, with pyloric atresia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226730"> 226730 </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">
|
|
ITGB4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147557"> 147557 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/226730" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS226650" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/226730" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/226730" 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> 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 erosions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50792001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50792001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200020</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 mucosal blistering <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853945</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200097</a>]</span><br /> -
|
|
Oral mucosal erosions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775167</a>]</span><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 /> -
|
|
Dental enamel pitting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009722</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009722</a>]</span><br /> -
|
|
Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</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 erosions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/196623008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">196623008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K22.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K22.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341117</a>]</span><br /> -
|
|
Esophageal stenosis <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>, <a href="https://bioportal.bioontology.org/search?q=C0014866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014866</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>, <a href="https://hpo.jax.org/app/browse/term/HP:0010450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010450</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010450</a>]</span><br /> -
|
|
Esophageal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26179002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26179002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q39.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q39.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002032" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002032</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002032" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002032</a>]</span><br /> -
|
|
Pyloric stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367403001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367403001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48644003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48644003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q40.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q40.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K31.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034194</a>, <a href="https://bioportal.bioontology.org/search?q=C0700639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span><br /> -
|
|
Pyloric atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27729002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27729002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266159</a>]</span><br /> -
|
|
Duodenal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51118003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51118003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span><br />
|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ureterovesical stenosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024633</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008714</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008714</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Skin blistering (onset at birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775159</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/823996003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">823996003</a>]</span><br /> -
|
|
Skin erosions (onset at birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775160</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93448009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93448009</a>]</span><br /> -
|
|
Aplasia cutis congenita <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254237003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254237003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q84.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q84.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0282160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0282160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001057</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001057</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Focal skin necrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775171</a>]</span><br /> -
|
|
Absent adnexal structures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678109</a>]</span><br /> -
|
|
Normal laminin-5 immunofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775172</a>]</span><br /> -
|
|
Decreased-absent beta-4 integrin immunofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775173&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775173</a>]</span><br /> -
|
|
Decreased alpha-6 integrin immunofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775174</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleavage plane within the basement membrane zone lamina lucida <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775819</a>]</span><br /> -
|
|
Hypoplastic hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856945</a>]</span><br /> -
|
|
Decreased number of hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775175</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nail dystrophy <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 /> -
|
|
Toenail dystrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775820</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
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|
|
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|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Amniotic Fluid </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br /> -
|
|
Elevated amniotic fluid alphafetoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839860</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004639</a>]</span><br /> -
|
|
'Snowflake' sign (multiple echogenic particles) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775170</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Maternal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Elevated maternal serum alphafetoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4023361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4023361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011432</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Early death in some patients<br /> -
|
|
Non-lethal patients may have later onset of blistering<br />
|
|
|
|
</span>
|
|
</div>
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|
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</div>
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|
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</div>
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in integrin, beta-4 (ITGB4, <a href="/entry/147557#0001">147557.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Epidermolysis bullosa, junctional
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- <a href="/phenotypicSeries/PS226650">PS226650</a>
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- 10 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487"> 1q25.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619786"> Epidermolysis bullosa, junctional 3B, severe </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619786"> 619786 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/150292"> LAMC2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/150292"> 150292 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487"> 1q25.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619785"> Epidermolysis bullosa, junctional 3A, intermediate </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/619785"> 619785 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/150292"> LAMC2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/150292"> 150292 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1666?start=-3&limit=10&highlight=1666"> 1q32.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/226650"> Epidermolysis bullosa, junctional 1A, intermediate </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/226650"> 226650 </a>
|
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/150310"> LAMB3 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/150310"> 150310 </a>
|
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</span>
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</td>
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</tr>
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|
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1666?start=-3&limit=10&highlight=1666"> 1q32.2 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/226700"> Epidermolysis bullosa, junctional 1B, severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226700"> 226700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150310"> LAMB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150310"> 150310 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/545?start=-3&limit=10&highlight=545"> 10q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619787"> Epidermolysis bullosa, junctional 4, intermediate </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>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619787"> 619787 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113811"> COL17A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113811"> 113811 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/729?start=-3&limit=10&highlight=729"> 17q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614748"> Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome </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">
|
|
<a href="/entry/614748"> 614748 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605025"> ITGA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605025"> 605025 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/950?start=-3&limit=10&highlight=950"> 17q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226730"> Epidermolysis bullosa, junctional 5B, with pyloric atresia </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">
|
|
<a href="/entry/226730"> 226730 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147557"> ITGB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147557"> 147557 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/950?start=-3&limit=10&highlight=950"> 17q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619816"> Epidermolysis bullosa, junctional 5A, intermediate </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">
|
|
<a href="/entry/619816"> 619816 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147557"> ITGB4 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147557"> 147557 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/619784"> Epidermolysis bullosa, junctional 2B, severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619784"> 619784 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600805"> LAMA3 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600805"> 600805 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619783"> Epidermolysis bullosa, junctional 2A, intermediate </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">
|
|
<a href="/entry/619783"> 619783 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600805"> LAMA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600805"> 600805 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
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</tbody>
|
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</table>
|
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
|
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</h4>
|
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that junctional epidermolysis bullosa 5B with pyloric atresia (JEB5B) is caused by homozygous or compound heterozygous mutations in the integrin-beta-4 gene (ITGB4; <a href="/entry/147557">147557</a>) on chromosome 17q25.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>Junctional epidermolysis bullosa 5B with pyloric atresia (JEB5B) is an autosomal recessive blistering disease of skin and mucous membranes. Severity of skin involvement ranges from extensive full thickness skin loss (aplasia cutis congenita) to mild epidermolysis bullosa that improves with age. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Pyloric atresia is usually evident within a few days to weeks of life. Atresia may occur at other gastrointestinal sites including the esophagus and duodenum. JEB5B is usually lethal within the first few weeks of life despite surgical correction of pyloric atresia. Milder, non-lethal forms with less skin blistering have been reported (summary by <a href="#14" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" 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>Another form of junctional epidermolysis bullosa with pyloric atresia (JEB6; <a href="/entry/619817">619817</a>) is caused by mutations in the integrin-alpha-6 gene (ITGA6; <a href="/entry/147556">147556</a>).</p><p>See also epidermolysis bullosa simplex with pyloric atresia (EBS5C; <a href="/entry/612138">612138</a>), which is caused by mutations in the PLEC1 gene (<a href="/entry/601282">601282</a>).</p><p>For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (<a href="/entry/226650">226650</a>).</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al. (2020)</a> reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" 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 study involving 265 cases of junctional or hemidesmosomal EB, <a href="#30" class="mim-tip-reference" title="Varki, R., Sadowski, S., Pfendner, E., Uitto, J. <strong>Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.</strong> J. Med. Genet. 43: 641-652, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16473856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16473856</a>] [<a href="https://doi.org/10.1136/jmg.2005.039685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16473856">Varki et al. (2006)</a> reviewed the clinical and molecular heterogeneity of these subtypes of EB, discussed exceptions to the general rules on genotype-phenotype correlations, and noted unusual phenotypes and genetics observed in patients and families with EB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16473856" 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>Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. <a href="#29" class="mim-tip-reference" title="Uitto, J., Pulkkinen, L., McLean, W. H. I. <strong>Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.</strong> Molec. Med. Today 3: 457-465, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9358473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9358473</a>] [<a href="https://doi.org/10.1016/s1357-4310(97)01112-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9358473">Uitto et al. (1997)</a> and <a href="#25" class="mim-tip-reference" title="Pulkkinen, L., Uitto, J. <strong>Hemidesmosomal variants of epidermolysis bullosa: mutations in the alpha-6-beta-4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.</strong> Exp. Derm. 7: 46-64, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9583744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9583744</a>] [<a href="https://doi.org/10.1111/j.1600-0625.1998.tb00304.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9583744">Pulkkinen and Uitto (1998)</a> proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the hemidesmosomal region of the skin. However, in subsequent reports of consensus conferences, Fine et al. (<a href="#12" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J. <strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong> J. Am. Acad. Derm. 42: 1051-1066, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827412</a>]" pmid="10827412">2000</a>, <a href="#11" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G. <strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong> J. Am. Acad. Derm. 58: 931-950, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18374450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18374450</a>] [<a href="https://doi.org/10.1016/j.jaad.2008.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18374450">2008</a>) eliminated the term 'hemidesmosomal' because it added undue confusion. The disorder is considered to be a form of junctional EB because skin cleavage occurs within the lamina lucida. Hemidesmosomes may be abnormal because the integrins span this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9358473+9583744+10827412+18374450" 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>Bull et al. (<a href="#6" class="mim-tip-reference" title="Bull, M., Norins, A., Weaver, D. D., Weber, T. <strong>Autosomal recessive epidermolysis bullosa--pyloric atresia syndrome. (Abstract)</strong> Am. J. Hum. Genet. 32: 101A only, 1980."None>1980</a>, <a href="#5" class="mim-tip-reference" title="Bull, M. J., Norins, A. L., Weaver, D. D., Weber, T., Mitchell, M. <strong>Epidermolysis bullosa--pyloric atresia: an autosomal recessive syndrome.</strong> Am. J. Dis. Child. 137: 449-451, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6846272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6846272</a>]" pmid="6846272">1983</a>) reported a sister and brother with epidermolysis bullosa and pyloric atresia at birth. Both died in early infancy of complications related to the skin disorder. An older stillborn sister was probably affected. Both sibs also had bilateral stenosis at the ureterovesical junctions with bilateral pyelonephrosis; this feature was present in an earlier-reported case. Electron microscopic studies of skin biopsy specimens disclosed findings consistent with a diagnosis of epidermolysis bullosa letalis, or the Herlitz form of JEB (see <a href="/entry/226700">226700</a>). The authors found 10 previously reported cases and 2 instances in which sibs were affected, suggesting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6846272" 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>Similar cases were reported by <a href="#2" class="mim-tip-reference" title="Adashi, E. Y., Louis, F. J., Vasquez, M. <strong>An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia.</strong> J. Pediat. 96: 443-446, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7359240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7359240</a>] [<a href="https://doi.org/10.1016/s0022-3476(80)80695-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7359240">Adashi et al. (1980)</a> and <a href="#3" class="mim-tip-reference" title="Berger, T. G., Detlefs, R. L., Donatucci, C. F. <strong>Junctional epidermolysis bullosa, pyloric atresia and genitourinary disease.</strong> Pediat. Derm. 3: 130-134, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3952029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3952029</a>] [<a href="https://doi.org/10.1111/j.1525-1470.1986.tb00503.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3952029">Berger et al. (1986)</a>. Death usually occurred in the first few months of life despite surgical management of the pyloric abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3952029+7359240" 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="#8" class="mim-tip-reference" title="Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J. <strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong> Am. J. Med. Genet. 11: 319-328, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>] [<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177243">Carmi et al. (1982)</a> described 2 sibs from consanguineous Bedouin parents with extensive aplasia cutis congenita. Only 1 had pyloric atresia. Elevated amniotic fluid alpha-fetoprotein was noted by <a href="#8" class="mim-tip-reference" title="Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J. <strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong> Am. J. Med. Genet. 11: 319-328, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>] [<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177243">Carmi et al. (1982)</a> and by <a href="#18" class="mim-tip-reference" title="Leschot, N. J., Treffers, P. E. <strong>Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects.</strong> Lancet 306: 1141 only, 1975. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/53617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">53617</a>] [<a href="https://doi.org/10.1016/s0140-6736(75)91024-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="53617">Leschot and Treffers (1975)</a>. <a href="#7" class="mim-tip-reference" title="Carey, J. C., Bose, C. L., Piepkorn, M. W. <strong>Aplasia cutis congenita--the Carmi syndrome; confirmation of a new neonatal generalized skin disorder. (Abstract)</strong> Proc. Greenwood Genet. Center 2: 116-117, 1983."None>Carey et al. (1983)</a> described a pair of dizygotic twins, a boy and girl, with extensive skin changes similar to the changes observed in the patients of <a href="#8" class="mim-tip-reference" title="Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J. <strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong> Am. J. Med. Genet. 11: 319-328, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>] [<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177243">Carmi et al. (1982)</a>. <a href="#7" class="mim-tip-reference" title="Carey, J. C., Bose, C. L., Piepkorn, M. W. <strong>Aplasia cutis congenita--the Carmi syndrome; confirmation of a new neonatal generalized skin disorder. (Abstract)</strong> Proc. Greenwood Genet. Center 2: 116-117, 1983."None>Carey et al. (1983)</a> suggested that the designation 'aplasia cutis congenita' was inappropriate because it usually entails involvement of the scalp predominantly or exclusively; they suggested the eponymic designation Carmi syndrome. One of the twins had axillary pterygia and bilateral lower lid ectropion, whereas the other showed esophageal atresia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=53617+6177243" 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="#28" class="mim-tip-reference" title="Toriello, H. V., Higgins, J. V., Waterman, D. F. <strong>Autosomal-recessive aplasia cutis congenita--report of two affected sibs.</strong> Am. J. Med. Genet. 15: 153-156, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6859116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6859116</a>] [<a href="https://doi.org/10.1002/ajmg.1320150122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6859116">Toriello et al. (1983)</a> reported affected brother and sister, and <a href="#19" class="mim-tip-reference" title="Leschot, N. J. <strong>Congenital skin defects and gastrointestinal atresia. (Letter)</strong> Am. J. Med. Genet. 15: 157 only, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6190399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6190399</a>] [<a href="https://doi.org/10.1002/ajmg.1320150123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6190399">Leschot (1983)</a> called attention to the similar case reported by <a href="#17" class="mim-tip-reference" title="Leschot, N. J., Treffers, P. E., Becker-Bloemkolk, M. J., van Zanten, S., de Groot, W. P., Verjaal, M. <strong>Severe congenital skin defects in a newborn: case report and relevance of several obstetrical parameters.</strong> Europ. J. Obstet. Gynec. Reprod. Biol. 10: 381-388, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6157584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6157584</a>] [<a href="https://doi.org/10.1016/0028-2243(80)90023-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6157584">Leschot et al. (1980)</a>. <a href="#13" class="mim-tip-reference" title="Frieden, I. J. <strong>Aplasia cutis congenita: a clinical review and proposal for classification.</strong> J. Am. Acad. Derm. 14: 646-660, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3514708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3514708</a>] [<a href="https://doi.org/10.1016/s0190-9622(86)70082-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3514708">Frieden (1986)</a> reported arthrogryposis and ear and nose deformities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3514708+6859116+6190399+6157584" 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="#10" class="mim-tip-reference" title="Egan, N., Ward, R., Olmstead, M., Marks, J. G., Jr. <strong>Junctional epidermolysis bullosa and pyloric atresia in two siblings.</strong> Arch. Derm. 121: 1186-1188, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4037846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4037846</a>]" pmid="4037846">Egan et al. (1985)</a> described 2 male sibs with pyloric atresia and junctional epidermolysis bullosa confirmed by electron microscopy. Cutaneous erosions and blisters were present in various locations in both; both had dystrophic nails. Surgical correction of pyloric atresia was performed in both, but death occurred at 12 weeks of age in one sib and at 32 days of age in the other. Autopsy in the first sib revealed marked esophageal erosions, interstitial nephritis with hyaline droplet change of the tubules, and submucosal hemorrhage and areas of calcification in the bladder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4037846" 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="#32" class="mim-tip-reference" title="Vivona, G., Frontali, M., Di Nunzio, M. L., Vendemiati, A. <strong>Aplasia cutis congenita and/or epidermolysis bullosa. (Letter)</strong> Am. J. Med. Genet. 26: 497-502, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812599</a>] [<a href="https://doi.org/10.1002/ajmg.1320260229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812599">Vivona et al. (1987)</a> described a sister and brother with lethal congenital cutis aplasia. Only 1 had esophageal atresia with complete absence of the pyloris. In the view of <a href="#32" class="mim-tip-reference" title="Vivona, G., Frontali, M., Di Nunzio, M. L., Vendemiati, A. <strong>Aplasia cutis congenita and/or epidermolysis bullosa. (Letter)</strong> Am. J. Med. Genet. 26: 497-502, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812599</a>] [<a href="https://doi.org/10.1002/ajmg.1320260229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812599">Vivona et al. (1987)</a>, the similarity between their cases and those of <a href="#8" class="mim-tip-reference" title="Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J. <strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong> Am. J. Med. Genet. 11: 319-328, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>] [<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177243">Carmi et al. (1982)</a> strongly supported the existence of a unique EB-like mutation, i.e., an autosomal recessive disorder with variable involvement of skin, nails, and mucosa, with variable effects on the digestive system. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3812599+6177243" 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="#26" class="mim-tip-reference" title="Rosenbloom, M. S., Ratner, M. <strong>Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.</strong> J. Pediat. Surg. 22: 374-376, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3572700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3572700</a>] [<a href="https://doi.org/10.1016/s0022-3468(87)80248-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3572700">Rosenbloom and Ratner (1987)</a> reported premature sibs with lethal epidermolysis bullosa associated with congenital pyloric atresia. A review of other cases indicated that it is usually a lethal condition with death due to the septic complications of EB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3572700" 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="Ishigami, T., Akaishi, K., Nishimura, S., Yokoo, T. <strong>A case of pyloric atresia associated with junctional epidermolysis bullosa.</strong> Europ. J. Pediat. 149: 306-307, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2311625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2311625</a>] [<a href="https://doi.org/10.1007/BF02171553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2311625">Ishigami et al. (1990)</a> described congenital pyloric atresia in a female infant with junctional EB who, despite successful early surgical correction of the obstruction, died from intractable diarrhea and protein-losing gastroenteropathy at the age of 4.5 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2311625" 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="#16" class="mim-tip-reference" title="Lacour, J. P., Hoffman, P., Bastiani-Griffet, F., Boutte, P., Pisani, A., Ortonne, J. P. <strong>Lethal junctional epidermolysis bullosa with normal expression of BM600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?</strong> Europ. J. Pediat. 151: 252-257, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1499575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1499575</a>] [<a href="https://doi.org/10.1007/BF02072223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1499575">Lacour et al. (1992)</a> described a case of lethal JEB in a newborn girl who also had pyloric stenosis. Immunohistologic and electron microscopic studies showed cleavage through the lamina lucida of the digestive basement membrane, as for the localized skin blisters. There was normal immunostaining of the laminin glycoprotein BM600 at the dermoepidermal junction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1499575" 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="#31" class="mim-tip-reference" title="Vidal, F., Aberdam, D., Miquel, C., Christiano, A. M., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.</strong> Nature Genet. 10: 229-234, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545057</a>] [<a href="https://doi.org/10.1038/ng0695-229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545057">Vidal et al. (1995)</a> reported an infant with JEB and mutation in the ITGB4 gene who presented at birth with pyloric atresia and cutaneous aplasia of the left hand. Perioral blistering and erosions of the mucosa of the mouth, upper esophagus and cornea were noted shortly after birth. Gastric erosions were found later. The infant died at the age of 8 months as the result of infection of skin blisters and generalized infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545057" 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="#23" class="mim-tip-reference" title="Pulkkinen, L., Bruckner-Tuderman, L., August, C., Uitto, J. <strong>Compound heterozygosity for missense mutation (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.</strong> Am. J. Path. 152: 935-941, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9546354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9546354</a>]" pmid="9546354">Pulkkinen et al. (1998)</a> described an 18-month-old boy with mild epidermolysis bullosa and pyloric atresia and mutation in the ITGB4 gene. Pyloric atresia was diagnosed at birth and surgically removed at 3 days of age. Following the operation skin blistering was noted at sites exposed to mechanical trauma; blisters healed without apparent scarring, milia, or pigmentary changes. With age, only occasional blisters developed, mostly at the sites of trauma such as knees and toes, and dystrophy of some toenails developed. At the time of the report the patient was mostly free from blisters, and mucous membranes were not involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9546354" 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="#9" class="mim-tip-reference" title="Chavanas, S., Gache, Y., Vailly, J., Kanitakis, J., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Splicing modulation of integrin beta-4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.</strong> Hum. Molec. Genet. 8: 2097-2105, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484780</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484780">Chavanas et al. (1999)</a> reported a patient with JEB-PA and mutation in the ITGB4 gene who represented a rare instance in which JEB-PA showed improvement with age. The proband was a 14-year-old boy, the child of nonconsanguineous parents, who at birth presented all the hallmarks of severe JEB-PA, including extensive skin blistering, pyloric atresia, and urethrovesical occlusion. However, as the child grew, the blistering tendency decreased and his skin and epithelia acquired resistance to trauma. At the age of 14, induction of blisters required prolonged rubbing of the skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484780" 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>The transmission pattern of JEB5B in the family reported by <a href="#31" class="mim-tip-reference" title="Vidal, F., Aberdam, D., Miquel, C., Christiano, A. M., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.</strong> Nature Genet. 10: 229-234, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545057</a>] [<a href="https://doi.org/10.1038/ng0695-229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545057">Vidal et al. (1995)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545057" 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="#20" class="mim-tip-reference" title="Lestringant, G. G., Akel, S. R., Qayed, K. I. <strong>The pyloric atresia-junctional epidermolysis bullosa syndrome: report of a case and review of the literature.</strong> Arch. Derm. 128: 1083-1086, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497363</a>] [<a href="https://doi.org/10.1001/archderm.128.8.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1497363">Lestringant et al. (1992)</a> found that the GB3 monoclonal antibody, which reacts to laminin-5 subunits, was normally expressed in skin biopsies from 3 of 3 cases of JEB-PA, thus excluding it as a form of Herlitz JEB, which is due to mutations in genes encoding laminin-5 subunits. <a href="#20" class="mim-tip-reference" title="Lestringant, G. G., Akel, S. R., Qayed, K. I. <strong>The pyloric atresia-junctional epidermolysis bullosa syndrome: report of a case and review of the literature.</strong> Arch. Derm. 128: 1083-1086, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497363</a>] [<a href="https://doi.org/10.1001/archderm.128.8.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1497363">Lestringant et al. (1992)</a> concluded that the pyloric atresia/epidermolysis bullosa association represents an autosomal recessive entity of JEB, and that pyloric atresia is a primary manifestation rather than a scarring process secondary to JEB. The authors noted that patients with JEB-PA often have erosions and/or subepithelial cleavage in the respiratory, gastrointestinal, and urinary tracts. Obstruction of the ureterovesical junction and a high incidence of a peculiar form of aplasia cutis congenita were considered to be additional features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1497363" 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="Maman, E., Maor, E., Kachko, L., Carmi, R. <strong>Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.</strong> Am. J. Med. Genet. 78: 127-133, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674902</a>]" pmid="9674902">Maman et al. (1998)</a> provided detailed clinical and histopathologic information on 8 cases of the triple syndrome epidermolysis bullosa/pyloric atresia/aplasia cutis congenita (EB-PA-ACC). The affected individuals were members of the extended Bedouin family first described by <a href="#8" class="mim-tip-reference" title="Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J. <strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong> Am. J. Med. Genet. 11: 319-328, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>] [<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177243">Carmi et al. (1982)</a>. All affected infants were found to have mixed skin lesions, including blisters and patchy lack of skin. In 7 of the 8, intestinal obstructions, especially pyloric atresia or stenosis, were found. Skin lesions involved all layers with marked dystrophic changes. The intestinal obstruction was the result of overproliferation of connective tissue. In view of the clinical and histopathologic findings, <a href="#21" class="mim-tip-reference" title="Maman, E., Maor, E., Kachko, L., Carmi, R. <strong>Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.</strong> Am. J. Med. Genet. 78: 127-133, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674902</a>]" pmid="9674902">Maman et al. (1998)</a> postulated that the condition is caused by an autosomal recessive mutation affecting the integrity of the basement membrane and hemidesmosomes and the control of the normal process of fibrosis occurring during wound healing. The sequence of events appeared to be initiated by the separation of the epidermis or the intestinal mucosal layer. An inflammatory reaction then takes place and proceeds with massive fibrosis penetrating the deep layers and causing damage to skin and obstruction of the intestinal lumen. <a href="#21" class="mim-tip-reference" title="Maman, E., Maor, E., Kachko, L., Carmi, R. <strong>Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.</strong> Am. J. Med. Genet. 78: 127-133, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674902</a>]" pmid="9674902">Maman et al. (1998)</a> postulated a mutation in one of the integrin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9674902+6177243" 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="#22" class="mim-tip-reference" title="Nazzaro, V., Nicolini, U., De Luca, L., Berti, E., Caputo, R. <strong>Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.</strong> J. Med. Genet. 27: 244-248, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2182874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2182874</a>] [<a href="https://doi.org/10.1136/jmg.27.4.244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2182874">Nazzaro et al. (1990)</a> made the prenatal diagnosis of JEB-PA by ultrastructural demonstration of dermal-epidermal separation at the lamina lucida level in fetal skin obtained at 18 weeks of gestation. Fetal ultrasound showed marked gastric dilatation, and light microscopy of pyloric tissue obtained after termination showed that the pyloric lumen was replaced by loose connective tissue with no inflammatory reaction. Skin biopsy studies showed a positive reaction with the GB3 antibody, thus excluding the Herlitz form of JEB. In the family studied, 2 previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2182874" 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>Although AFP and skin biopsy had been used for prenatal diagnosis of this condition, <a href="#1" class="mim-tip-reference" title="Achiron, R., Hamiel-Pinchas, O., Engelberg, S., Barkai, G., Reichman, B., Mashiach, S. <strong>Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.</strong> Prenatal Diag. 12: 765-771, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1279662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1279662</a>] [<a href="https://doi.org/10.1002/pd.1970120909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1279662">Achiron et al. (1992)</a> found normal levels of amniotic AFP at 16 weeks' gestation in a woman at risk for this disorder in her fetus. However, 10 weeks later, ultrasonography showed hydramnios, dilated stomach, deformed external ear, and contracted fisted hand, all of which were confirmed postnatally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1279662" 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 infant with junctional epidermolysis bullosa with pyloric atresia (JEB5B), <a href="#31" class="mim-tip-reference" title="Vidal, F., Aberdam, D., Miquel, C., Christiano, A. M., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.</strong> Nature Genet. 10: 229-234, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545057</a>] [<a href="https://doi.org/10.1038/ng0695-229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545057">Vidal et al. (1995)</a> demonstrated compound heterozygosity for 2 mutations in the integrin beta-4 gene (<a href="/entry/147557#0001">147557.0001</a>, <a href="/entry/147557#0002">147557.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545057" 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 nonlethal JEB-PA and survival until 14 years of age, <a href="#9" class="mim-tip-reference" title="Chavanas, S., Gache, Y., Vailly, J., Kanitakis, J., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Splicing modulation of integrin beta-4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.</strong> Hum. Molec. Genet. 8: 2097-2105, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484780</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484780">Chavanas et al. (1999)</a> found compound heterozygosity for 2 splice site mutations in the ITGB4 gene (<a href="/entry/147557#0007">147557.0007</a> and <a href="/entry/147557#0011">147557.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484780" 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 members of the original inbred Bedouin kindred from southern Israel with EB-PA-ACC described by <a href="#8" class="mim-tip-reference" title="Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J. <strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong> Am. J. Med. Genet. 11: 319-328, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>] [<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177243">Carmi et al. (1982)</a> and <a href="#21" class="mim-tip-reference" title="Maman, E., Maor, E., Kachko, L., Carmi, R. <strong>Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.</strong> Am. J. Med. Genet. 78: 127-133, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674902</a>]" pmid="9674902">Maman et al. (1998)</a>, <a href="#4" class="mim-tip-reference" title="Birnbaum, R. Y., Landau, D., Elbedour, K., Ofir, R., Birk, O. S., Carmi, R. <strong>Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. (Letter)</strong> Am. J. Med. Genet. 146A: 1063-1066, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348258</a>] [<a href="https://doi.org/10.1002/ajmg.a.31903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18348258">Birnbaum et al. (2008)</a> identified a homozygous 2,279-bp in-frame deletion in exons 27-30 of the ITBG4 gene (<a href="/entry/147557#0016">147557.0016</a>). They stated that this was the largest deletion in the ITBG4 gene to date and included the first pair of fibronectin III repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9674902+18348258+6177243" 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="#24" class="mim-tip-reference" title="Pulkkinen, L., Rouan, F., Bruckner-Tuderman, L., Wallerstein, R., Garzon, M., Brown, T., Smith, L., Carter, W., Uitto, J. <strong>Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.</strong> Am. J. Hum. Genet. 63: 1376-1387, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792864</a>] [<a href="https://doi.org/10.1086/302116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792864">Pulkkinen et al. (1998)</a> identified novel lesions of both ITGB4 alleles in the probands of 5 families with JEB-PA, 2 of them with lethal and 3 of them with nonlethal variants of the disease. Of the 2 patients with lethal JEB-PA, one was a compound heterozygote for premature termination codon mutations, and the other was homozygous for a missense mutation involving a cysteine residue (C61Y; <a href="/entry/147557#0005">147557.0005</a>). The 3 patients with nonlethal JEB-PA had missense mutations on both alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792864" 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="#Schnur1985" class="mim-tip-reference" title="Schnur, R. E., Ashmead, J., Kelley, R. I. <strong>A lethal ichthyosis variant with arthrogryposis. (Abstract)</strong> Am. J. Hum. Genet. 37: A76 only, 1985.">Schnur et al. (1985)</a>
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<strong>REFERENCES</strong>
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<a id="Achiron1992" class="mim-anchor"></a>
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Achiron, R., Hamiel-Pinchas, O., Engelberg, S., Barkai, G., Reichman, B., Mashiach, S.
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<strong>Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.</strong>
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Prenatal Diag. 12: 765-771, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1279662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1279662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1279662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/pd.1970120909" target="_blank">Full Text</a>]
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Adashi, E. Y., Louis, F. J., Vasquez, M.
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<strong>An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia.</strong>
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J. Pediat. 96: 443-446, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7359240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7359240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7359240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(80)80695-0" target="_blank">Full Text</a>]
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<a id="Berger1986" class="mim-anchor"></a>
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Berger, T. G., Detlefs, R. L., Donatucci, C. F.
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<strong>Junctional epidermolysis bullosa, pyloric atresia and genitourinary disease.</strong>
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Pediat. Derm. 3: 130-134, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3952029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3952029</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3952029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1525-1470.1986.tb00503.x" target="_blank">Full Text</a>]
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Birnbaum, R. Y., Landau, D., Elbedour, K., Ofir, R., Birk, O. S., Carmi, R.
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<strong>Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. (Letter)</strong>
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Am. J. Med. Genet. 146A: 1063-1066, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31903" target="_blank">Full Text</a>]
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Bull, M. J., Norins, A. L., Weaver, D. D., Weber, T., Mitchell, M.
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<strong>Epidermolysis bullosa--pyloric atresia: an autosomal recessive syndrome.</strong>
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Am. J. Dis. Child. 137: 449-451, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6846272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6846272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6846272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Bull1980" class="mim-anchor"></a>
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<p class="mim-text-font">
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Bull, M., Norins, A., Weaver, D. D., Weber, T.
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<strong>Autosomal recessive epidermolysis bullosa--pyloric atresia syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 32: 101A only, 1980.
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<a id="Carey1983" class="mim-anchor"></a>
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Carey, J. C., Bose, C. L., Piepkorn, M. W.
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<strong>Aplasia cutis congenita--the Carmi syndrome; confirmation of a new neonatal generalized skin disorder. (Abstract)</strong>
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Proc. Greenwood Genet. Center 2: 116-117, 1983.
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<a id="Carmi1982" class="mim-anchor"></a>
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Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J.
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<strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong>
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Am. J. Med. Genet. 11: 319-328, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6177243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320110308" target="_blank">Full Text</a>]
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<a id="Chavanas1999" class="mim-anchor"></a>
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Chavanas, S., Gache, Y., Vailly, J., Kanitakis, J., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G.
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<strong>Splicing modulation of integrin beta-4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.</strong>
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Hum. Molec. Genet. 8: 2097-2105, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.11.2097" target="_blank">Full Text</a>]
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Egan, N., Ward, R., Olmstead, M., Marks, J. G., Jr.
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<strong>Junctional epidermolysis bullosa and pyloric atresia in two siblings.</strong>
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Arch. Derm. 121: 1186-1188, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4037846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4037846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4037846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Fine2008" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/ajmg.1320150122" target="_blank">Full Text</a>]
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<a id="Uitto1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Uitto, J., Pulkkinen, L., McLean, W. H. I.
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<strong>Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.</strong>
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Molec. Med. Today 3: 457-465, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9358473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9358473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9358473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1357-4310(97)01112-x" target="_blank">Full Text</a>]
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Varki, R., Sadowski, S., Pfendner, E., Uitto, J.
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<strong>Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.</strong>
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J. Med. Genet. 43: 641-652, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16473856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16473856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16473856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.039685" target="_blank">Full Text</a>]
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Vidal, F., Aberdam, D., Miquel, C., Christiano, A. M., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G.
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<strong>Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.</strong>
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Nature Genet. 10: 229-234, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0695-229" target="_blank">Full Text</a>]
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Vivona, G., Frontali, M., Di Nunzio, M. L., Vendemiati, A.
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<strong>Aplasia cutis congenita and/or epidermolysis bullosa. (Letter)</strong>
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Am. J. Med. Genet. 26: 497-502, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260229" target="_blank">Full Text</a>]
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Kelly A. Przylepa - updated : 08/02/2022
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Anne M. Stumpf - updated : 03/29/2022<br>Kelly A. Przylepa - updated : 2/5/2009<br>Cassandra L. Kniffin - reorganized : 7/7/2008<br>Cassandra L. Kniffin - updated : 7/1/2008<br>Marla J. F. O'Neill - updated : 8/31/2006<br>Anne M. Stumpf - updated : 5/21/2003<br>Victor A. McKusick - updated : 11/5/1999<br>Victor A. McKusick - updated : 12/8/1998<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 5/30/1997
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Victor A. McKusick : 6/3/1986
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alopez : 08/04/2023
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alopez : 08/02/2022<br>alopez : 03/29/2022<br>carol : 12/16/2020<br>alopez : 07/28/2015<br>alopez : 5/13/2015<br>terry : 4/9/2009<br>carol : 2/5/2009<br>terry : 2/5/2009<br>carol : 10/9/2008<br>carol : 7/7/2008<br>ckniffin : 7/1/2008<br>wwang : 9/1/2006<br>terry : 8/31/2006<br>alopez : 5/21/2003<br>mgross : 11/5/1999<br>carol : 12/11/1998<br>terry : 12/8/1998<br>alopez : 9/8/1998<br>terry : 9/2/1998<br>terry : 5/30/1997<br>mark : 6/1/1995<br>mimadm : 2/19/1994<br>carol : 10/29/1993<br>carol : 12/22/1992<br>carol : 10/2/1992<br>supermim : 3/16/1992
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<strong>#</strong> 226730
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA<br />
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EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA<br />
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JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA<br />
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JEB-PA<br />
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA<br />
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EB-PA-ACC<br />
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CARMI SYNDROME<br />
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APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
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<strong>ORPHA:</strong> 79403;
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<strong>DO:</strong> 0060733;
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17q25.1
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Epidermolysis bullosa, junctional 5B, with pyloric atresia
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226730
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Autosomal recessive
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<p>A number sign (#) is used with this entry because of evidence that junctional epidermolysis bullosa 5B with pyloric atresia (JEB5B) is caused by homozygous or compound heterozygous mutations in the integrin-beta-4 gene (ITGB4; 147557) on chromosome 17q25.</p>
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<p>Junctional epidermolysis bullosa 5B with pyloric atresia (JEB5B) is an autosomal recessive blistering disease of skin and mucous membranes. Severity of skin involvement ranges from extensive full thickness skin loss (aplasia cutis congenita) to mild epidermolysis bullosa that improves with age. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Pyloric atresia is usually evident within a few days to weeks of life. Atresia may occur at other gastrointestinal sites including the esophagus and duodenum. JEB5B is usually lethal within the first few weeks of life despite surgical correction of pyloric atresia. Milder, non-lethal forms with less skin blistering have been reported (summary by Has et al., 2020). </p><p>Another form of junctional epidermolysis bullosa with pyloric atresia (JEB6; 619817) is caused by mutations in the integrin-alpha-6 gene (ITGA6; 147556).</p><p>See also epidermolysis bullosa simplex with pyloric atresia (EBS5C; 612138), which is caused by mutations in the PLEC1 gene (601282).</p><p>For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).</p><p><strong><em>Reviews</em></strong></p><p>
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Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. </p><p>In a study involving 265 cases of junctional or hemidesmosomal EB, Varki et al. (2006) reviewed the clinical and molecular heterogeneity of these subtypes of EB, discussed exceptions to the general rules on genotype-phenotype correlations, and noted unusual phenotypes and genetics observed in patients and families with EB. </p>
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<p>Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. Uitto et al. (1997) and Pulkkinen and Uitto (1998) proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the hemidesmosomal region of the skin. However, in subsequent reports of consensus conferences, Fine et al. (2000, 2008) eliminated the term 'hemidesmosomal' because it added undue confusion. The disorder is considered to be a form of junctional EB because skin cleavage occurs within the lamina lucida. Hemidesmosomes may be abnormal because the integrins span this region. </p>
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<p>Bull et al. (1980, 1983) reported a sister and brother with epidermolysis bullosa and pyloric atresia at birth. Both died in early infancy of complications related to the skin disorder. An older stillborn sister was probably affected. Both sibs also had bilateral stenosis at the ureterovesical junctions with bilateral pyelonephrosis; this feature was present in an earlier-reported case. Electron microscopic studies of skin biopsy specimens disclosed findings consistent with a diagnosis of epidermolysis bullosa letalis, or the Herlitz form of JEB (see 226700). The authors found 10 previously reported cases and 2 instances in which sibs were affected, suggesting autosomal recessive inheritance. </p><p>Similar cases were reported by Adashi et al. (1980) and Berger et al. (1986). Death usually occurred in the first few months of life despite surgical management of the pyloric abnormality. </p><p>Carmi et al. (1982) described 2 sibs from consanguineous Bedouin parents with extensive aplasia cutis congenita. Only 1 had pyloric atresia. Elevated amniotic fluid alpha-fetoprotein was noted by Carmi et al. (1982) and by Leschot and Treffers (1975). Carey et al. (1983) described a pair of dizygotic twins, a boy and girl, with extensive skin changes similar to the changes observed in the patients of Carmi et al. (1982). Carey et al. (1983) suggested that the designation 'aplasia cutis congenita' was inappropriate because it usually entails involvement of the scalp predominantly or exclusively; they suggested the eponymic designation Carmi syndrome. One of the twins had axillary pterygia and bilateral lower lid ectropion, whereas the other showed esophageal atresia. </p><p>Toriello et al. (1983) reported affected brother and sister, and Leschot (1983) called attention to the similar case reported by Leschot et al. (1980). Frieden (1986) reported arthrogryposis and ear and nose deformities. </p><p>Egan et al. (1985) described 2 male sibs with pyloric atresia and junctional epidermolysis bullosa confirmed by electron microscopy. Cutaneous erosions and blisters were present in various locations in both; both had dystrophic nails. Surgical correction of pyloric atresia was performed in both, but death occurred at 12 weeks of age in one sib and at 32 days of age in the other. Autopsy in the first sib revealed marked esophageal erosions, interstitial nephritis with hyaline droplet change of the tubules, and submucosal hemorrhage and areas of calcification in the bladder. </p><p>Vivona et al. (1987) described a sister and brother with lethal congenital cutis aplasia. Only 1 had esophageal atresia with complete absence of the pyloris. In the view of Vivona et al. (1987), the similarity between their cases and those of Carmi et al. (1982) strongly supported the existence of a unique EB-like mutation, i.e., an autosomal recessive disorder with variable involvement of skin, nails, and mucosa, with variable effects on the digestive system. </p><p>Rosenbloom and Ratner (1987) reported premature sibs with lethal epidermolysis bullosa associated with congenital pyloric atresia. A review of other cases indicated that it is usually a lethal condition with death due to the septic complications of EB. </p><p>Ishigami et al. (1990) described congenital pyloric atresia in a female infant with junctional EB who, despite successful early surgical correction of the obstruction, died from intractable diarrhea and protein-losing gastroenteropathy at the age of 4.5 months. </p><p>Lacour et al. (1992) described a case of lethal JEB in a newborn girl who also had pyloric stenosis. Immunohistologic and electron microscopic studies showed cleavage through the lamina lucida of the digestive basement membrane, as for the localized skin blisters. There was normal immunostaining of the laminin glycoprotein BM600 at the dermoepidermal junction. </p><p>Vidal et al. (1995) reported an infant with JEB and mutation in the ITGB4 gene who presented at birth with pyloric atresia and cutaneous aplasia of the left hand. Perioral blistering and erosions of the mucosa of the mouth, upper esophagus and cornea were noted shortly after birth. Gastric erosions were found later. The infant died at the age of 8 months as the result of infection of skin blisters and generalized infection. </p><p>Pulkkinen et al. (1998) described an 18-month-old boy with mild epidermolysis bullosa and pyloric atresia and mutation in the ITGB4 gene. Pyloric atresia was diagnosed at birth and surgically removed at 3 days of age. Following the operation skin blistering was noted at sites exposed to mechanical trauma; blisters healed without apparent scarring, milia, or pigmentary changes. With age, only occasional blisters developed, mostly at the sites of trauma such as knees and toes, and dystrophy of some toenails developed. At the time of the report the patient was mostly free from blisters, and mucous membranes were not involved. </p><p>Chavanas et al. (1999) reported a patient with JEB-PA and mutation in the ITGB4 gene who represented a rare instance in which JEB-PA showed improvement with age. The proband was a 14-year-old boy, the child of nonconsanguineous parents, who at birth presented all the hallmarks of severe JEB-PA, including extensive skin blistering, pyloric atresia, and urethrovesical occlusion. However, as the child grew, the blistering tendency decreased and his skin and epithelia acquired resistance to trauma. At the age of 14, induction of blisters required prolonged rubbing of the skin. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of JEB5B in the family reported by Vidal et al. (1995) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<p>Lestringant et al. (1992) found that the GB3 monoclonal antibody, which reacts to laminin-5 subunits, was normally expressed in skin biopsies from 3 of 3 cases of JEB-PA, thus excluding it as a form of Herlitz JEB, which is due to mutations in genes encoding laminin-5 subunits. Lestringant et al. (1992) concluded that the pyloric atresia/epidermolysis bullosa association represents an autosomal recessive entity of JEB, and that pyloric atresia is a primary manifestation rather than a scarring process secondary to JEB. The authors noted that patients with JEB-PA often have erosions and/or subepithelial cleavage in the respiratory, gastrointestinal, and urinary tracts. Obstruction of the ureterovesical junction and a high incidence of a peculiar form of aplasia cutis congenita were considered to be additional features. </p><p>Maman et al. (1998) provided detailed clinical and histopathologic information on 8 cases of the triple syndrome epidermolysis bullosa/pyloric atresia/aplasia cutis congenita (EB-PA-ACC). The affected individuals were members of the extended Bedouin family first described by Carmi et al. (1982). All affected infants were found to have mixed skin lesions, including blisters and patchy lack of skin. In 7 of the 8, intestinal obstructions, especially pyloric atresia or stenosis, were found. Skin lesions involved all layers with marked dystrophic changes. The intestinal obstruction was the result of overproliferation of connective tissue. In view of the clinical and histopathologic findings, Maman et al. (1998) postulated that the condition is caused by an autosomal recessive mutation affecting the integrity of the basement membrane and hemidesmosomes and the control of the normal process of fibrosis occurring during wound healing. The sequence of events appeared to be initiated by the separation of the epidermis or the intestinal mucosal layer. An inflammatory reaction then takes place and proceeds with massive fibrosis penetrating the deep layers and causing damage to skin and obstruction of the intestinal lumen. Maman et al. (1998) postulated a mutation in one of the integrin genes. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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<span class="mim-text-font">
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Nazzaro et al. (1990) made the prenatal diagnosis of JEB-PA by ultrastructural demonstration of dermal-epidermal separation at the lamina lucida level in fetal skin obtained at 18 weeks of gestation. Fetal ultrasound showed marked gastric dilatation, and light microscopy of pyloric tissue obtained after termination showed that the pyloric lumen was replaced by loose connective tissue with no inflammatory reaction. Skin biopsy studies showed a positive reaction with the GB3 antibody, thus excluding the Herlitz form of JEB. In the family studied, 2 previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. </p><p>Although AFP and skin biopsy had been used for prenatal diagnosis of this condition, Achiron et al. (1992) found normal levels of amniotic AFP at 16 weeks' gestation in a woman at risk for this disorder in her fetus. However, 10 weeks later, ultrasonography showed hydramnios, dilated stomach, deformed external ear, and contracted fisted hand, all of which were confirmed postnatally. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>In an infant with junctional epidermolysis bullosa with pyloric atresia (JEB5B), Vidal et al. (1995) demonstrated compound heterozygosity for 2 mutations in the integrin beta-4 gene (147557.0001, 147557.0002). </p><p>In a patient with nonlethal JEB-PA and survival until 14 years of age, Chavanas et al. (1999) found compound heterozygosity for 2 splice site mutations in the ITGB4 gene (147557.0007 and 147557.0011). </p><p>In members of the original inbred Bedouin kindred from southern Israel with EB-PA-ACC described by Carmi et al. (1982) and Maman et al. (1998), Birnbaum et al. (2008) identified a homozygous 2,279-bp in-frame deletion in exons 27-30 of the ITBG4 gene (147557.0016). They stated that this was the largest deletion in the ITBG4 gene to date and included the first pair of fibronectin III repeats. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Pulkkinen et al. (1998) identified novel lesions of both ITGB4 alleles in the probands of 5 families with JEB-PA, 2 of them with lethal and 3 of them with nonlethal variants of the disease. Of the 2 patients with lethal JEB-PA, one was a compound heterozygote for premature termination codon mutations, and the other was homozygous for a missense mutation involving a cysteine residue (C61Y; 147557.0005). The 3 patients with nonlethal JEB-PA had missense mutations on both alleles. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Schnur et al. (1985)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<strong>Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.</strong>
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Prenatal Diag. 12: 765-771, 1992.
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Adashi, E. Y., Louis, F. J., Vasquez, M.
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<strong>An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia.</strong>
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J. Pediat. 96: 443-446, 1980.
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Berger, T. G., Detlefs, R. L., Donatucci, C. F.
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<strong>Junctional epidermolysis bullosa, pyloric atresia and genitourinary disease.</strong>
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Birnbaum, R. Y., Landau, D., Elbedour, K., Ofir, R., Birk, O. S., Carmi, R.
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<strong>Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. (Letter)</strong>
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Am. J. Med. Genet. 146A: 1063-1066, 2008.
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Bull, M. J., Norins, A. L., Weaver, D. D., Weber, T., Mitchell, M.
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<strong>Epidermolysis bullosa--pyloric atresia: an autosomal recessive syndrome.</strong>
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Am. J. Dis. Child. 137: 449-451, 1983.
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Bull, M., Norins, A., Weaver, D. D., Weber, T.
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<strong>Autosomal recessive epidermolysis bullosa--pyloric atresia syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 32: 101A only, 1980.
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Carey, J. C., Bose, C. L., Piepkorn, M. W.
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<strong>Aplasia cutis congenita--the Carmi syndrome; confirmation of a new neonatal generalized skin disorder. (Abstract)</strong>
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Proc. Greenwood Genet. Center 2: 116-117, 1983.
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Carmi, R., Sofer, S., Karplus, M., Ben-Yakar, Y., Mahler, D., Zirkin, H., Bar-Ziv, J.
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<strong>Aplasia cutis congenita in two sibs discordant for pyloric atresia.</strong>
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Am. J. Med. Genet. 11: 319-328, 1982.
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Chavanas, S., Gache, Y., Vailly, J., Kanitakis, J., Pulkkinen, L., Uitto, J., Ortonne, J.-P., Meneguzzi, G.
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<strong>Splicing modulation of integrin beta-4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.</strong>
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Hum. Molec. Genet. 8: 2097-2105, 1999.
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[Full Text: https://doi.org/10.1093/hmg/8.11.2097]
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Egan, N., Ward, R., Olmstead, M., Marks, J. G., Jr.
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<strong>Junctional epidermolysis bullosa and pyloric atresia in two siblings.</strong>
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Arch. Derm. 121: 1186-1188, 1985.
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Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G.
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<strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong>
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Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J.
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<strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong>
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Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
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<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
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Ishigami, T., Akaishi, K., Nishimura, S., Yokoo, T.
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<strong>A case of pyloric atresia associated with junctional epidermolysis bullosa.</strong>
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Europ. J. Pediat. 149: 306-307, 1990.
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Lacour, J. P., Hoffman, P., Bastiani-Griffet, F., Boutte, P., Pisani, A., Ortonne, J. P.
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<strong>Lethal junctional epidermolysis bullosa with normal expression of BM600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?</strong>
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Europ. J. Pediat. 151: 252-257, 1992.
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<p class="mim-text-font">
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Leschot, N. J., Treffers, P. E., Becker-Bloemkolk, M. J., van Zanten, S., de Groot, W. P., Verjaal, M.
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<strong>Severe congenital skin defects in a newborn: case report and relevance of several obstetrical parameters.</strong>
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<p class="mim-text-font">
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Leschot, N. J., Treffers, P. E.
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<strong>Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects.</strong>
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Lancet 306: 1141 only, 1975. Note: Originally Volume 2.
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[PubMed: 53617]
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</p>
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<p class="mim-text-font">
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Leschot, N. J.
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<strong>Congenital skin defects and gastrointestinal atresia. (Letter)</strong>
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Am. J. Med. Genet. 15: 157 only, 1983.
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[PubMed: 6190399]
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[Full Text: https://doi.org/10.1002/ajmg.1320150123]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lestringant, G. G., Akel, S. R., Qayed, K. I.
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<strong>The pyloric atresia-junctional epidermolysis bullosa syndrome: report of a case and review of the literature.</strong>
|
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Arch. Derm. 128: 1083-1086, 1992.
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[PubMed: 1497363]
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[Full Text: https://doi.org/10.1001/archderm.128.8.1083]
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</p>
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</li>
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<li>
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