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Entry
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- #131705 - TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
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- OMIM
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<p>
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<span class="h4">#131705</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/131705"><strong>Clinical Synopsis</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="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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=TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN" 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=11437&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="https://www.ncbi.nlm.nih.gov/books/NBK1304/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7164" 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=131705[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=79411" 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 style="display: table-cell;">Animal Models</div>
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</a>
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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:0111345" 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/131705" 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/OMIA000341/" 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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<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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<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>SNOMEDCT:</strong> 723553000<br />
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<strong>ORPHA:</strong> 79411<br />
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<strong>DO:</strong> 0111345<br />
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">ICD+</a>
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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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131705
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</span>
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<div>
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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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TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM<br />
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DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL
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</span>
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</h4>
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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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/3/285?start=-3&limit=10&highlight=285">
|
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3p21.31
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</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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Transient bullous of the newborn
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<td>
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<span class="mim-font">
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<a href="/entry/131705"> 131705 </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 dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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 class="mim-font">
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COL7A1
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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/120120"> 120120 </a>
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</span>
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</td>
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</tr>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/131705" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/131705" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/131705" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
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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 />
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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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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Epidermolysis bullosa, dystrophic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254185007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254185007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079294</a>]</span><br /> -
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Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br /> -
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Blisters <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/339008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">339008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344311</a>, <a href="https://bioportal.bioontology.org/search?q=C0005758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005758</a>, <a href="https://bioportal.bioontology.org/search?q=C2132198&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2132198</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008066</a>]</span><br /> -
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Milia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37719003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37719003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254679001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254679001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span><br /> -
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Mild atrophic scarring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675687</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409766009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409766009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239172000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239172000</a>]</span><br />
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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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<span class="h5 mim-font">
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<em> Electron Microscopy </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Sublamina densa level of tissue separation beneath basal membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676807</a>]</span><br /> -
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Decreased number of anchoring fibrils at dermal-epidermal junction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676808</a>]</span><br /> -
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Hypotrophic anchoring fibrils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676809</a>]</span><br /> -
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Retention of COL7A1 within endoplasmic reticulum in epidermal keratinocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675688</a>]</span><br /> -
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Decreased staining for collagen VII at the dermal-epidermal junction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675684</a>]</span><br /> -
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Anchoring fibrils revert to normal with clinical resolution of the disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675689</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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<span class="h5 mim-font">
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<em> Nails </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- 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 />
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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">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
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Skin lesions resolve between 6 months and 2 years of age<br /> -
|
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Some patients have milder persistent blistering<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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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, <a href="/entry/120120#0014">120120.0014</a>).<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 class="text-right">
|
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<a href="#mimClinicalSynopsisFold" 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 transient bullous dermolysis of the newborn (TBDN) is caused by heterozygous or compound heterozygous mutation in the COL7A1 gene (<a href="/entry/120120">120120</a>) on chromosome 3p21.</p><p>Autosomal dominant and autosomal recessive epidermolysis bullosa dystrophica (<a href="/entry/131750">131750</a>, <a href="/entry/226600">226600</a>) are allelic disorders.</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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<span class="mim-text-font">
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<p>Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by <a href="#2" class="mim-tip-reference" title="Fassihi, H., Diba, V. C., Wessagowit, V., Dopping-Hepenstal, P. J. C., Jones, C. A., Burrows, N. P., McGrath, J. A. <strong>Transient bullous dermolysis of the newborn in three generations.</strong> Brit. J. Derm. 153: 1058-1063, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16225626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16225626</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2005.06873.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16225626">Fassihi et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16225626" 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="#8" class="mim-tip-reference" title="Hashimoto, K., Matsumoto, M., Iacobelli, D. <strong>Transient bullous dermolysis of the newborn.</strong> Arch. Derm. 121: 1429-1438, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3901931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3901931</a>]" pmid="3901931">Hashimoto et al. (1985)</a> first described this disorder in an African American male delivered by cesarean section who developed large bullae on his extremities and in other friction areas soon after birth. The bullae healed rapidly, leaving hypopigmentation, but no scars or milia. Occasional new lesions continued to appear for 4 months but not after. Reexamination 12 months later showed a normal healthy infant with only residual hypopigmentation in some of the previously involved areas. Histologic and electron microscopic examinations revealed a subepidermal bulla that was ultrastructurally a subbasal lamina separation associated with collagenolysis and damage to the anchoring fibrils. There was no significant family history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3901931" 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="#7" class="mim-tip-reference" title="Hashimoto, K., Burk, J. D., Bale, G. F., Eto, H., Hashimoto, A., Kameyama, K., Kanzaki, T., Nishiyama, S. <strong>Transient bullous dermolysis of the newborn: two additional cases.</strong> J. Am. Acad. Derm. 21: 708-713, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2681282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2681282</a>] [<a href="https://doi.org/10.1016/s0190-9622(89)70241-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2681282">Hashimoto et al. (1989)</a> reported 2 additional cases of transient bullous dermolysis of the newborn. One was a white boy who had normal skin at birth, but developed multiple blisters soon after. The oral mucous membranes were not affected. All lesions healed within 4 months without scars but with many milia. No blisters or milia were apparent at age 17 months. The second patient was a Japanese girl who showed extensive denudation of her hands at birth. Generalized blisters and involvement of the oral mucous membrane developed. Blistering stopped within 1.25 months, and all lesions healed without scars. The blisters were subepidermal in both cases. Electron microscopy revealed collagenolysis, diminution or loss of anchoring fibrils, and stellate inclusions in dilated rough endoplasmic reticulum in the keratinocytes of the lower epidermis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2681282" 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="#3" class="mim-tip-reference" title="Fine, J. D., Horiguchi, Y., Stein, D. H., Esterly, N. B., Leigh, I. M. <strong>Intraepidermal type VII collagen: evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.</strong> J. Am. Acad. Derm. 22: 188-195, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2104504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2104504</a>]" pmid="2104504">Fine et al. (1990)</a> also described cases. The usual finding is blistering during the first months of life but none after age 1 year. Immunohistochemical studies showed granular basilar keratinocyte perinuclear intracytoplasmic deposits of COL7A1, rather than exclusively linear basement membrane deposits. <a href="#3" class="mim-tip-reference" title="Fine, J. D., Horiguchi, Y., Stein, D. H., Esterly, N. B., Leigh, I. M. <strong>Intraepidermal type VII collagen: evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.</strong> J. Am. Acad. Derm. 22: 188-195, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2104504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2104504</a>]" pmid="2104504">Fine et al. (1990)</a> proposed a defect in the intracytoplasmic packaging or in the transport of type VII collagen within basilar keratinocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2104504" 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>Fine et al. (<a href="#5" class="mim-tip-reference" title="Fine, J. D., Johnson, L. B., Leigh, I. M., Briggaman, R. A. <strong>Intracytoplasmic retention of type VII collagen in dominant dystrophic epidermolysis bullosa: ultrastructural demonstration of reversal of defect following cessation of or marked improvement of disease activity. (Abstract)</strong> Clin. Res. 39: 323A only, 1991."None>1991</a>, <a href="#4" class="mim-tip-reference" title="Fine, J. D., Johnson, L. B., Cronce, D., Wright, J. T., Leigh, I. M., McCollough, M., Briggaman, R. A. <strong>Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.</strong> J. Invest. Derm. 101: 232-236, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8345225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8345225</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12364899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8345225">1993</a>) performed longitudinal studies of 9 patients from 4 families with transient bullous dermolysis of the newborn. Clinical features included the development of generalized blisters and skin erosions at birth followed by milia formation. Nail dystrophy was also apparent, but nails tended to regrow normally. In 3 families, blister formation disappeared by age 6 months; in the fourth family, blister activity became minimal within the first 2 years of life although some lesions continued to occur into the thirties. During the blistering period, type VII collagen was retained within basilar keratinocytes rather than incorporated into the dermal-epidermal junction. However, following complete cessation of or marked reduction in the extent of blister formation, type VII collagen was expressed in normal intensity in linear distribution along the dermal-epidermal junction, identical to that observed in normal human skin. Fine et al. (<a href="#5" class="mim-tip-reference" title="Fine, J. D., Johnson, L. B., Leigh, I. M., Briggaman, R. A. <strong>Intracytoplasmic retention of type VII collagen in dominant dystrophic epidermolysis bullosa: ultrastructural demonstration of reversal of defect following cessation of or marked improvement of disease activity. (Abstract)</strong> Clin. Res. 39: 323A only, 1991."None>1991</a>, <a href="#4" class="mim-tip-reference" title="Fine, J. D., Johnson, L. B., Cronce, D., Wright, J. T., Leigh, I. M., McCollough, M., Briggaman, R. A. <strong>Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.</strong> J. Invest. Derm. 101: 232-236, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8345225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8345225</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12364899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8345225">1993</a>) concluded that the temporary presence of mechanical fragility and blister formation reflected a delay in transport and integration of type VII collagen from basilar keratinocytes into skin basement membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8345225" 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="McCollough, M. L., Grimwood, R. E., Grabski, W. J. <strong>Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen. (Letter)</strong> J. Am. Acad. Derm. 24: 512 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2061461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2061461</a>] [<a href="https://doi.org/10.1016/s0190-9622(08)80088-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2061461">McCollough et al. (1991)</a> reported an infant with this disorder. She was born with blisters on the hands, feet, trunk, face, and oral mucosa which healed without scarring. By age 6 months the patient had developed only an occasional blister. The mother stated that during the first 6 months of life she also had had blisters, which spontaneously resolved at 6 months of age. Intraepidermal type VII collagen was demonstrated immunohistologically. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2061461" 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="#2" class="mim-tip-reference" title="Fassihi, H., Diba, V. C., Wessagowit, V., Dopping-Hepenstal, P. J. C., Jones, C. A., Burrows, N. P., McGrath, J. A. <strong>Transient bullous dermolysis of the newborn in three generations.</strong> Brit. J. Derm. 153: 1058-1063, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16225626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16225626</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2005.06873.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16225626">Fassihi et al. (2005)</a> reported autosomal dominant TBDN in a proband, his father, and his paternal grandfather. The authors performed a skin biopsy analysis in the affected individuals, which showed persistence of some intraepidermal type VIII collagen, suggesting that despite the clinical resolution, some abnormalities of type VII collagen processing and secretion may persist. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16225626" 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 TBDN in the family reported by <a href="#4" class="mim-tip-reference" title="Fine, J. D., Johnson, L. B., Cronce, D., Wright, J. T., Leigh, I. M., McCollough, M., Briggaman, R. A. <strong>Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.</strong> J. Invest. Derm. 101: 232-236, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8345225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8345225</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12364899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8345225">Fine et al. (1993)</a> and <a href="#1" class="mim-tip-reference" title="Christiano, A. M., Fine, J.-D., Uitto, J. <strong>Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.</strong> J. Invest. Derm. 109: 811-814, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9406826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9406826</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12341013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9406826">Christiano et al. (1997)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8345225+9406826" 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 affected members of a family with autosomal dominant transient bullous dermolysis of the newborn reported by <a href="#4" class="mim-tip-reference" title="Fine, J. D., Johnson, L. B., Cronce, D., Wright, J. T., Leigh, I. M., McCollough, M., Briggaman, R. A. <strong>Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.</strong> J. Invest. Derm. 101: 232-236, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8345225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8345225</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12364899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8345225">Fine et al. (1993)</a>, <a href="#1" class="mim-tip-reference" title="Christiano, A. M., Fine, J.-D., Uitto, J. <strong>Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.</strong> J. Invest. Derm. 109: 811-814, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9406826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9406826</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12341013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9406826">Christiano et al. (1997)</a> identified a heterozygous mutation in the COL7A1 gene (<a href="/entry/120120#0039">120120.0039</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8345225+9406826" 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 TBDN, <a href="#6" class="mim-tip-reference" title="Hammami-Hauasli, N., Raghunath, M., Kuster, W., Bruckner-Tuderman, L. <strong>Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.</strong> J. Invest. Derm. 111: 1214-1219, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856844</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00394.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856844">Hammami-Hauasli et al. (1998)</a> identified compound heterozygosity for 2 mutations in the COL7A1 gene (G2251E, <a href="/entry/120120#0014">120120.0014</a>; G1519D, <a href="/entry/120120#0015">120120.0015</a>). Heterozygous carriers of the G2251E allele had normal skin but isolated toenail dystrophy (<a href="/entry/607523">607523</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856844" 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 affected males in 3 generations of a family segregating TBDN, <a href="#2" class="mim-tip-reference" title="Fassihi, H., Diba, V. C., Wessagowit, V., Dopping-Hepenstal, P. J. C., Jones, C. A., Burrows, N. P., McGrath, J. A. <strong>Transient bullous dermolysis of the newborn in three generations.</strong> Brit. J. Derm. 153: 1058-1063, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16225626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16225626</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2005.06873.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16225626">Fassihi et al. (2005)</a> identified a heterozygous mutation in the COL7A1 gene (<a href="/entry/120120#0044">120120.0044</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16225626" 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 class="mim-text-font">
|
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Fassihi, H., Diba, V. C., Wessagowit, V., Dopping-Hepenstal, P. J. C., Jones, C. A., Burrows, N. P., McGrath, J. A.
|
|
<strong>Transient bullous dermolysis of the newborn in three generations.</strong>
|
|
Brit. J. Derm. 153: 1058-1063, 2005.
|
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16225626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16225626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16225626" 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.1365-2133.2005.06873.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Fine1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fine, J. D., Horiguchi, Y., Stein, D. H., Esterly, N. B., Leigh, I. M.
|
|
<strong>Intraepidermal type VII collagen: evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.</strong>
|
|
J. Am. Acad. Derm. 22: 188-195, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2104504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2104504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2104504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Fine1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fine, J. D., Johnson, L. B., Cronce, D., Wright, J. T., Leigh, I. M., McCollough, M., Briggaman, R. A.
|
|
<strong>Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.</strong>
|
|
J. Invest. Derm. 101: 232-236, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8345225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8345225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8345225" 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/10.1111/1523-1747.ep12364899" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Fine1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fine, J. D., Johnson, L. B., Leigh, I. M., Briggaman, R. A.
|
|
<strong>Intracytoplasmic retention of type VII collagen in dominant dystrophic epidermolysis bullosa: ultrastructural demonstration of reversal of defect following cessation of or marked improvement of disease activity. (Abstract)</strong>
|
|
Clin. Res. 39: 323A only, 1991.
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Hammami-Hauasli1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hammami-Hauasli, N., Raghunath, M., Kuster, W., Bruckner-Tuderman, L.
|
|
<strong>Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.</strong>
|
|
J. Invest. Derm. 111: 1214-1219, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856844" 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/10.1046/j.1523-1747.1998.00394.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Hashimoto1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hashimoto, K., Burk, J. D., Bale, G. F., Eto, H., Hashimoto, A., Kameyama, K., Kanzaki, T., Nishiyama, S.
|
|
<strong>Transient bullous dermolysis of the newborn: two additional cases.</strong>
|
|
J. Am. Acad. Derm. 21: 708-713, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2681282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2681282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2681282" 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/s0190-9622(89)70241-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Hashimoto1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hashimoto, K., Matsumoto, M., Iacobelli, D.
|
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<strong>Transient bullous dermolysis of the newborn.</strong>
|
|
Arch. Derm. 121: 1429-1438, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3901931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3901931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3901931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="McCollough1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McCollough, M. L., Grimwood, R. E., Grabski, W. J.
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<strong>Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen. (Letter)</strong>
|
|
J. Am. Acad. Derm. 24: 512 only, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2061461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2061461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2061461" 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/s0190-9622(08)80088-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 8/11/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/16/2008<br>Victor A. McKusick - updated : 3/22/1999
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/9/1991
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/14/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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joanna : 08/02/2021<br>carol : 06/23/2016<br>carol : 5/17/2016<br>carol : 8/11/2011<br>carol : 11/5/2009<br>carol : 5/20/2008<br>ckniffin : 5/16/2008<br>carol : 3/22/1999<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>carol : 1/24/1992<br>carol : 5/13/1991<br>carol : 5/9/1991
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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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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 131705
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
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</span>
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</h3>
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM<br />
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DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL
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</span>
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</h4>
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 723553000;
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<strong>ORPHA:</strong> 79411;
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<strong>DO:</strong> 0111345;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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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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3p21.31
|
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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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Transient bullous of the newborn
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
131705
|
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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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Autosomal dominant; Autosomal recessive
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
COL7A1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
120120
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because transient bullous dermolysis of the newborn (TBDN) is caused by heterozygous or compound heterozygous mutation in the COL7A1 gene (120120) on chromosome 3p21.</p><p>Autosomal dominant and autosomal recessive epidermolysis bullosa dystrophica (131750, 226600) are allelic disorders.</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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<h4>
|
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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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<span class="mim-text-font">
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<p>Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by Fassihi et al., 2005). </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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<h4>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hashimoto et al. (1985) first described this disorder in an African American male delivered by cesarean section who developed large bullae on his extremities and in other friction areas soon after birth. The bullae healed rapidly, leaving hypopigmentation, but no scars or milia. Occasional new lesions continued to appear for 4 months but not after. Reexamination 12 months later showed a normal healthy infant with only residual hypopigmentation in some of the previously involved areas. Histologic and electron microscopic examinations revealed a subepidermal bulla that was ultrastructurally a subbasal lamina separation associated with collagenolysis and damage to the anchoring fibrils. There was no significant family history. </p><p>Hashimoto et al. (1989) reported 2 additional cases of transient bullous dermolysis of the newborn. One was a white boy who had normal skin at birth, but developed multiple blisters soon after. The oral mucous membranes were not affected. All lesions healed within 4 months without scars but with many milia. No blisters or milia were apparent at age 17 months. The second patient was a Japanese girl who showed extensive denudation of her hands at birth. Generalized blisters and involvement of the oral mucous membrane developed. Blistering stopped within 1.25 months, and all lesions healed without scars. The blisters were subepidermal in both cases. Electron microscopy revealed collagenolysis, diminution or loss of anchoring fibrils, and stellate inclusions in dilated rough endoplasmic reticulum in the keratinocytes of the lower epidermis. </p><p>Fine et al. (1990) also described cases. The usual finding is blistering during the first months of life but none after age 1 year. Immunohistochemical studies showed granular basilar keratinocyte perinuclear intracytoplasmic deposits of COL7A1, rather than exclusively linear basement membrane deposits. Fine et al. (1990) proposed a defect in the intracytoplasmic packaging or in the transport of type VII collagen within basilar keratinocytes. </p><p>Fine et al. (1991, 1993) performed longitudinal studies of 9 patients from 4 families with transient bullous dermolysis of the newborn. Clinical features included the development of generalized blisters and skin erosions at birth followed by milia formation. Nail dystrophy was also apparent, but nails tended to regrow normally. In 3 families, blister formation disappeared by age 6 months; in the fourth family, blister activity became minimal within the first 2 years of life although some lesions continued to occur into the thirties. During the blistering period, type VII collagen was retained within basilar keratinocytes rather than incorporated into the dermal-epidermal junction. However, following complete cessation of or marked reduction in the extent of blister formation, type VII collagen was expressed in normal intensity in linear distribution along the dermal-epidermal junction, identical to that observed in normal human skin. Fine et al. (1991, 1993) concluded that the temporary presence of mechanical fragility and blister formation reflected a delay in transport and integration of type VII collagen from basilar keratinocytes into skin basement membrane. </p><p>McCollough et al. (1991) reported an infant with this disorder. She was born with blisters on the hands, feet, trunk, face, and oral mucosa which healed without scarring. By age 6 months the patient had developed only an occasional blister. The mother stated that during the first 6 months of life she also had had blisters, which spontaneously resolved at 6 months of age. Intraepidermal type VII collagen was demonstrated immunohistologically. </p><p>Fassihi et al. (2005) reported autosomal dominant TBDN in a proband, his father, and his paternal grandfather. The authors performed a skin biopsy analysis in the affected individuals, which showed persistence of some intraepidermal type VIII collagen, suggesting that despite the clinical resolution, some abnormalities of type VII collagen processing and secretion may persist. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of TBDN in the family reported by Fine et al. (1993) and Christiano et al. (1997) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a family with autosomal dominant transient bullous dermolysis of the newborn reported by Fine et al. (1993), Christiano et al. (1997) identified a heterozygous mutation in the COL7A1 gene (120120.0039). </p><p>In a patient with TBDN, Hammami-Hauasli et al. (1998) identified compound heterozygosity for 2 mutations in the COL7A1 gene (G2251E, 120120.0014; G1519D, 120120.0015). Heterozygous carriers of the G2251E allele had normal skin but isolated toenail dystrophy (607523). </p><p>In affected males in 3 generations of a family segregating TBDN, Fassihi et al. (2005) identified a heterozygous mutation in the COL7A1 gene (120120.0044). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Christiano, A. M., Fine, J.-D., Uitto, J.
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<strong>Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.</strong>
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J. Invest. Derm. 109: 811-814, 1997.
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[PubMed: 9406826]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12341013]
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Fassihi, H., Diba, V. C., Wessagowit, V., Dopping-Hepenstal, P. J. C., Jones, C. A., Burrows, N. P., McGrath, J. A.
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<strong>Transient bullous dermolysis of the newborn in three generations.</strong>
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Brit. J. Derm. 153: 1058-1063, 2005.
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[PubMed: 16225626]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2005.06873.x]
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Fine, J. D., Horiguchi, Y., Stein, D. H., Esterly, N. B., Leigh, I. M.
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<strong>Intraepidermal type VII collagen: evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.</strong>
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J. Am. Acad. Derm. 22: 188-195, 1990.
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[PubMed: 2104504]
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Fine, J. D., Johnson, L. B., Cronce, D., Wright, J. T., Leigh, I. M., McCollough, M., Briggaman, R. A.
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<strong>Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.</strong>
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J. Invest. Derm. 101: 232-236, 1993.
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[PubMed: 8345225]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12364899]
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<p class="mim-text-font">
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Fine, J. D., Johnson, L. B., Leigh, I. M., Briggaman, R. A.
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<strong>Intracytoplasmic retention of type VII collagen in dominant dystrophic epidermolysis bullosa: ultrastructural demonstration of reversal of defect following cessation of or marked improvement of disease activity. (Abstract)</strong>
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Clin. Res. 39: 323A only, 1991.
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Hammami-Hauasli, N., Raghunath, M., Kuster, W., Bruckner-Tuderman, L.
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<strong>Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.</strong>
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J. Invest. Derm. 111: 1214-1219, 1998.
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[PubMed: 9856844]
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[Full Text: https://doi.org/10.1046/j.1523-1747.1998.00394.x]
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Hashimoto, K., Burk, J. D., Bale, G. F., Eto, H., Hashimoto, A., Kameyama, K., Kanzaki, T., Nishiyama, S.
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<strong>Transient bullous dermolysis of the newborn: two additional cases.</strong>
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J. Am. Acad. Derm. 21: 708-713, 1989.
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[PubMed: 2681282]
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[Full Text: https://doi.org/10.1016/s0190-9622(89)70241-3]
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Hashimoto, K., Matsumoto, M., Iacobelli, D.
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<strong>Transient bullous dermolysis of the newborn.</strong>
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Arch. Derm. 121: 1429-1438, 1985.
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[PubMed: 3901931]
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McCollough, M. L., Grimwood, R. E., Grabski, W. J.
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<strong>Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen. (Letter)</strong>
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J. Am. Acad. Derm. 24: 512 only, 1991.
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[PubMed: 2061461]
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[Full Text: https://doi.org/10.1016/s0190-9622(08)80088-6]
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Carol A. Bocchini - updated : 8/11/2011<br>Cassandra L. Kniffin - updated : 5/16/2008<br>Victor A. McKusick - updated : 3/22/1999
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