2286 lines
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Entry
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- #132000 - EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
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- OMIM
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<span class="h4">#132000</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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<li role="presentation">
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<a href="/clinicalSynopsis/132000"><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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS" 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.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/8279" 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=132000[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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111347" 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/132000" 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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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 2689001<br />
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<strong>DO:</strong> 0111347<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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132000
|
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</span>
|
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</span>
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</div>
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</div>
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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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|
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EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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, BART TYPE
|
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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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<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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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
<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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Epidermolysis bullosa dystrophica, Bart type
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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/132000"> 132000 </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>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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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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</tbody>
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</table>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/132000" 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 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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<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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- Dystrophic epidermolysis bullosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254185007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254185007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079294</a>]</span><br /> - Congenital localized absence of skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673597</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007383</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007383</a>]</span><br /> - Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br />
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- Dystrophic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br />
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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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<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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<p>A number sign (#) is used with this entry because of evidence that the disorder results from mutation in the COL7A1 gene (<a href="/entry/120120">120120</a>) and is therefore a clinical variant of dominant dystrophic epidermolysis bullosa; see <a href="/entry/120120#0008">120120.0008</a>.</p>
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<div class="mim-changed mim-change"><p>Bart syndrome consists of congenital localized absence of skin, blistering, and nail absence, shedding, or deformity (summary by <a href="#9" class="mim-tip-reference" title="Zelickson, B., Matsumura, K., Kist, D., Epstein, E. H., Jr., Bart, B. J. <strong>Bart's syndrome: ultrastructure and genetic linkage.</strong> Arch. Derm. 131: 663-668, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7778916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7778916</a>] [<a href="https://doi.org/10.1001/archderm.131.6.663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7778916">Zelickson et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7778916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<div class="mim-changed mim-change"><p><a href="#1" class="mim-tip-reference" title="Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W. <strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong> Arch. Derm. 93: 296-304, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5910871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5910871</a>]" pmid="5910871">Bart et al. (1966)</a> reported a family with a syndrome consisting of congenital absence of skin on the lower extremities, blistering of skin and mucous membranes, and congenital absence or deformity of nails. Twenty-six persons were affected, and penetrance was complete. The condition seemed distinct from previously reported forms of local aplasia of skin and from various other types of epidermolysis bullosa. Congenital localized absence of skin is probably an occasional manifestation of epidermolysis bullosa, the result of in utero blistering (<a href="#2" class="mim-tip-reference" title="Bart, B. J. <strong>Epidermolysis bullosa and congenital localized absence of skin.</strong> Arch. Derm. 101: 78-81, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416799</a>]" pmid="5416799">Bart, 1970</a>). Father-son transmission was noted. A similar family was reported from the Faroe Islands by <a href="#6" class="mim-tip-reference" title="Joensen, H. D. <strong>Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands.</strong> Acta Derm. Venerol. 53: 53-60, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4120809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4120809</a>]" pmid="4120809">Joensen (1973)</a>. <a href="#8" class="mim-tip-reference" title="Skoven, I., Drzewiecki, K. T. <strong>Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.</strong> Acta Derm. Venerol. 59: 533-537, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/94215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">94215</a>]" pmid="94215">Skoven and Drzewiecki (1979)</a> reported a possible sporadic case. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5416799+4120809+94215+5910871" 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="Kanzler, M. H., Smoller, B., Woodley, D. T. <strong>Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.</strong> Arch. Derm. 128: 1087-1090, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497364</a>]" pmid="1497364">Kanzler et al. (1992)</a> described a family in which persons in 4 generations had epidermolysis bullosa simplex with congenital localized absence of skin (CLAS). The proband was admitted to hospital at 1 week of age with hypernatremic dehydration. At birth a large area of denuded skin was present on the right leg as well as a smaller area on the dorsal aspect of the left wrist and hand. The areas of CLAS healed completely by 3 months of age with minimal scarring. Nails were normal at birth. The proband's mother had an identical lesion on her leg at birth that resulted in a barely perceptible scar. She displayed no nail changes but did have skin fragility. <a href="#7" class="mim-tip-reference" title="Kanzler, M. H., Smoller, B., Woodley, D. T. <strong>Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.</strong> Arch. Derm. 128: 1087-1090, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497364</a>]" pmid="1497364">Kanzler et al. (1992)</a> suggested that the family reported by <a href="#1" class="mim-tip-reference" title="Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W. <strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong> Arch. Derm. 93: 296-304, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5910871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5910871</a>]" pmid="5910871">Bart et al. (1966)</a> probably had generalized EB simplex of the Koebner type (<a href="/entry/131900">131900</a>). They pointed out that CLAS has been reported in association with all 4 major types of inherited epidermolysis bullosa. They suggested that the areas of localized absence of skin are a clinical manifestation of EB in utero and not a separate entity such as aplasia cutis congenita (<a href="/entry/107600">107600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1497364+5910871" 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>Descriptions of patients with clinical findings similar to those in the large family reported by <a href="#1" class="mim-tip-reference" title="Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W. <strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong> Arch. Derm. 93: 296-304, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5910871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5910871</a>]" pmid="5910871">Bart et al. (1966)</a> suggested that the Bart syndrome may represent any of the 3 subtypes of epidermolysis bullosa: epidermal, junctional, or dermal. Because no histologic or ultrastructural studies were done in Bart's kindred, and neither immunohistologic nor genetic linkage methods were available at the time, classification of the syndrome remained unclear. <a href="#9" class="mim-tip-reference" title="Zelickson, B., Matsumura, K., Kist, D., Epstein, E. H., Jr., Bart, B. J. <strong>Bart's syndrome: ultrastructure and genetic linkage.</strong> Arch. Derm. 131: 663-668, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7778916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7778916</a>] [<a href="https://doi.org/10.1001/archderm.131.6.663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7778916">Zelickson et al. (1995)</a> reported the findings of clinical, ultrastructural, immunohistologic, and genetic linkage studies of the original kindred and their descendants. The clinical findings were similar to those reported in 1966. They did, however, detect persistence of blistering into adult life and mild atrophic scarring and milia formation at sites of blistering in some family members, a finding not noted in the original study. Hypertrophic scarring and albopapuloid lesions were not detected. Ultrastructural analysis of skin from affected family members showed poorly formed anchoring fibrils and cleavage below the lamina densa. Immunohistochemical staining localized type IV collagen at the roof of blistered skin. Staining for type VII collagen (<a href="/entry/120120">120120</a>) was found to have a normal distribution in nonblistered skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7778916+5910871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<div class="mim-changed mim-change"><p>In some families with Bart syndrome, linkage to the gene for type VII collagen has been demonstrated (<a href="#5" class="mim-tip-reference" title="Gruis, N. A., Bouwes Bavinck, J. N., Steijlen, P. M., van der Schroeff, J. G., van Haeringen, A., Happle, R., Mariman, E., van Beersum, S. E. C., Uitto, J., Vermeer, B. J., Frants, R. R. <strong>Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.</strong> J. Invest. Derm. 99: 528-530, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1358979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1358979</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12658066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1358979">Gruis et al., 1992</a>), suggesting that this is the site of the mutation in some and perhaps all cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1358979" 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="Zelickson, B., Matsumura, K., Kist, D., Epstein, E. H., Jr., Bart, B. J. <strong>Bart's syndrome: ultrastructure and genetic linkage.</strong> Arch. Derm. 131: 663-668, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7778916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7778916</a>] [<a href="https://doi.org/10.1001/archderm.131.6.663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7778916">Zelickson et al. (1995)</a> performed linkage analysis in the family reported by <a href="#1" class="mim-tip-reference" title="Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W. <strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong> Arch. Derm. 93: 296-304, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5910871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5910871</a>]" pmid="5910871">Bart et al. (1966)</a> and mapped the disorder to chromosome 3p at or near the site of the gene encoding type VII collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5910871+7778916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<div class="mim-changed mim-change"><p>In the family originally reported by <a href="#1" class="mim-tip-reference" title="Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W. <strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong> Arch. Derm. 93: 296-304, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5910871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5910871</a>]" pmid="5910871">Bart et al. (1966)</a>, <a href="#4" class="mim-tip-reference" title="Christiano, A. M., Bart, B. J., Epstein, E. H., Jr., Uitto, J. <strong>Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.</strong> J. Invest. Derm. 106: 778-780, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618021</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618021">Christiano et al. (1996)</a> demonstrated a mutation in the COL7A1 gene (G2003R; <a href="/entry/120120#0008">120120.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8618021+5910871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<a href="#Bart1971" class="mim-tip-reference" title="Bart, B. J. <strong>Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome.</strong> Birth Defects Orig. Art. Ser. VII(8): 118-120, 1971.">Bart (1971)</a>
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Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W.
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<strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong>
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Arch. Derm. 93: 296-304, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5910871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5910871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5910871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Bart1970" class="mim-anchor"></a>
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Bart, B. J.
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<strong>Epidermolysis bullosa and congenital localized absence of skin.</strong>
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Arch. Derm. 101: 78-81, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bart, B. J.
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<strong>Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome.</strong>
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Birth Defects Orig. Art. Ser. VII(8): 118-120, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Christiano1996" class="mim-anchor"></a>
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Christiano, A. M., Bart, B. J., Epstein, E. H., Jr., Uitto, J.
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<strong>Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.</strong>
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J. Invest. Derm. 106: 778-780, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618021</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8618021" 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.ep12346304" target="_blank">Full Text</a>]
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<a id="Gruis1992" class="mim-anchor"></a>
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Gruis, N. A., Bouwes Bavinck, J. N., Steijlen, P. M., van der Schroeff, J. G., van Haeringen, A., Happle, R., Mariman, E., van Beersum, S. E. C., Uitto, J., Vermeer, B. J., Frants, R. R.
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<strong>Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.</strong>
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J. Invest. Derm. 99: 528-530, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1358979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1358979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1358979" 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.ep12658066" target="_blank">Full Text</a>]
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<a id="Joensen1973" class="mim-anchor"></a>
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Joensen, H. D.
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<strong>Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands.</strong>
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Acta Derm. Venerol. 53: 53-60, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4120809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4120809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4120809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kanzler, M. H., Smoller, B., Woodley, D. T.
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<strong>Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.</strong>
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Arch. Derm. 128: 1087-1090, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1497364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Skoven, I., Drzewiecki, K. T.
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<strong>Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.</strong>
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Acta Derm. Venerol. 59: 533-537, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/94215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">94215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=94215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zelickson, B., Matsumura, K., Kist, D., Epstein, E. H., Jr., Bart, B. J.
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<strong>Bart's syndrome: ultrastructure and genetic linkage.</strong>
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Arch. Derm. 131: 663-668, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7778916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7778916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7778916" 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/10.1001/archderm.131.6.663" target="_blank">Full Text</a>]
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Victor A. McKusick : 6/4/1986
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alopez : 02/21/2025
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carol : 06/20/2022<br>terry : 06/12/1996<br>terry : 6/4/1996<br>mark : 11/6/1995<br>terry : 1/26/1995<br>mimadm : 9/24/1994<br>carol : 5/2/1994<br>carol : 7/22/1993<br>carol : 10/2/1992
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EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
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EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
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<strong>SNOMEDCT:</strong> 2689001;
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<strong>DO:</strong> 0111347;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3p21.31
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<span class="mim-font">
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Epidermolysis bullosa dystrophica, Bart type
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<span class="mim-font">
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132000
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Autosomal dominant
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<span class="mim-font">
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3
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COL7A1
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120120
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<p>A number sign (#) is used with this entry because of evidence that the disorder results from mutation in the COL7A1 gene (120120) and is therefore a clinical variant of dominant dystrophic epidermolysis bullosa; see 120120.0008.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Bart syndrome consists of congenital localized absence of skin, blistering, and nail absence, shedding, or deformity (summary by Zelickson et al., 1995). </p>
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<strong>Clinical Features</strong>
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<p>Bart et al. (1966) reported a family with a syndrome consisting of congenital absence of skin on the lower extremities, blistering of skin and mucous membranes, and congenital absence or deformity of nails. Twenty-six persons were affected, and penetrance was complete. The condition seemed distinct from previously reported forms of local aplasia of skin and from various other types of epidermolysis bullosa. Congenital localized absence of skin is probably an occasional manifestation of epidermolysis bullosa, the result of in utero blistering (Bart, 1970). Father-son transmission was noted. A similar family was reported from the Faroe Islands by Joensen (1973). Skoven and Drzewiecki (1979) reported a possible sporadic case. </p><p>Kanzler et al. (1992) described a family in which persons in 4 generations had epidermolysis bullosa simplex with congenital localized absence of skin (CLAS). The proband was admitted to hospital at 1 week of age with hypernatremic dehydration. At birth a large area of denuded skin was present on the right leg as well as a smaller area on the dorsal aspect of the left wrist and hand. The areas of CLAS healed completely by 3 months of age with minimal scarring. Nails were normal at birth. The proband's mother had an identical lesion on her leg at birth that resulted in a barely perceptible scar. She displayed no nail changes but did have skin fragility. Kanzler et al. (1992) suggested that the family reported by Bart et al. (1966) probably had generalized EB simplex of the Koebner type (131900). They pointed out that CLAS has been reported in association with all 4 major types of inherited epidermolysis bullosa. They suggested that the areas of localized absence of skin are a clinical manifestation of EB in utero and not a separate entity such as aplasia cutis congenita (107600). </p><p>Descriptions of patients with clinical findings similar to those in the large family reported by Bart et al. (1966) suggested that the Bart syndrome may represent any of the 3 subtypes of epidermolysis bullosa: epidermal, junctional, or dermal. Because no histologic or ultrastructural studies were done in Bart's kindred, and neither immunohistologic nor genetic linkage methods were available at the time, classification of the syndrome remained unclear. Zelickson et al. (1995) reported the findings of clinical, ultrastructural, immunohistologic, and genetic linkage studies of the original kindred and their descendants. The clinical findings were similar to those reported in 1966. They did, however, detect persistence of blistering into adult life and mild atrophic scarring and milia formation at sites of blistering in some family members, a finding not noted in the original study. Hypertrophic scarring and albopapuloid lesions were not detected. Ultrastructural analysis of skin from affected family members showed poorly formed anchoring fibrils and cleavage below the lamina densa. Immunohistochemical staining localized type IV collagen at the roof of blistered skin. Staining for type VII collagen (120120) was found to have a normal distribution in nonblistered skin. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>In some families with Bart syndrome, linkage to the gene for type VII collagen has been demonstrated (Gruis et al., 1992), suggesting that this is the site of the mutation in some and perhaps all cases. </p><p>Zelickson et al. (1995) performed linkage analysis in the family reported by Bart et al. (1966) and mapped the disorder to chromosome 3p at or near the site of the gene encoding type VII collagen. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the family originally reported by Bart et al. (1966), Christiano et al. (1996) demonstrated a mutation in the COL7A1 gene (G2003R; 120120.0008). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Bart (1971)
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bart, B. J., Gorlin, R. J., Anderson, V. E., Lynch, F. W.
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<strong>Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome.</strong>
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Arch. Derm. 93: 296-304, 1966.
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[PubMed: 5910871]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bart, B. J.
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<strong>Epidermolysis bullosa and congenital localized absence of skin.</strong>
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Arch. Derm. 101: 78-81, 1970.
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[PubMed: 5416799]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bart, B. J.
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<strong>Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome.</strong>
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Birth Defects Orig. Art. Ser. VII(8): 118-120, 1971.
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[PubMed: 5173254]
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<li>
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<p class="mim-text-font">
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Christiano, A. M., Bart, B. J., Epstein, E. H., Jr., Uitto, J.
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<strong>Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.</strong>
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J. Invest. Derm. 106: 778-780, 1996.
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[PubMed: 8618021]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12346304]
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</li>
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<li>
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<p class="mim-text-font">
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Gruis, N. A., Bouwes Bavinck, J. N., Steijlen, P. M., van der Schroeff, J. G., van Haeringen, A., Happle, R., Mariman, E., van Beersum, S. E. C., Uitto, J., Vermeer, B. J., Frants, R. R.
|
|
<strong>Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.</strong>
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J. Invest. Derm. 99: 528-530, 1992.
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[PubMed: 1358979]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12658066]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Joensen, H. D.
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<strong>Epidermolysis bullosa dystrophica dominans in two families in the Faroe Islands.</strong>
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Acta Derm. Venerol. 53: 53-60, 1973.
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[PubMed: 4120809]
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</li>
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<li>
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<p class="mim-text-font">
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Kanzler, M. H., Smoller, B., Woodley, D. T.
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<strong>Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.</strong>
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Arch. Derm. 128: 1087-1090, 1992.
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[PubMed: 1497364]
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<li>
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<p class="mim-text-font">
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Skoven, I., Drzewiecki, K. T.
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<strong>Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.</strong>
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Acta Derm. Venerol. 59: 533-537, 1979.
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[PubMed: 94215]
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<p class="mim-text-font">
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Zelickson, B., Matsumura, K., Kist, D., Epstein, E. H., Jr., Bart, B. J.
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<strong>Bart's syndrome: ultrastructure and genetic linkage.</strong>
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Arch. Derm. 131: 663-668, 1995.
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[PubMed: 7778916]
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[Full Text: https://doi.org/10.1001/archderm.131.6.663]
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 : 6/4/1986
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<span class="mim-text-font">
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alopez : 02/21/2025<br>carol : 06/20/2022<br>terry : 06/12/1996<br>terry : 6/4/1996<br>mark : 11/6/1995<br>terry : 1/26/1995<br>mimadm : 9/24/1994<br>carol : 5/2/1994<br>carol : 7/22/1993<br>carol : 10/2/1992
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