4046 lines
294 KiB
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4046 lines
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Entry
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- #226670 - EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B
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- OMIM
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<p>
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<span class="h4">#226670</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/226670"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS131760"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#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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<li role="presentation">
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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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</a>
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</h4>
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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><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY" 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=4046&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/NBK1369/" 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/2571" 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=226670[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=257" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/79cbc1a3-35b3-42ee-9c94-7e498ae8d4c2/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span class="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:0090017" 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/226670" 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/results?search_type=advanced&omia_id=000340,002080,002082" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 723308003<br />
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<strong>ORPHA:</strong> 257<br />
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<strong>DO:</strong> 0090017<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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226670
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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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EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B
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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 SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD<br />
|
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EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY<br />
|
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MD-EBS; MDEBS
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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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<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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<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/8/621?start=-3&limit=10&highlight=621">
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8q24.3
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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 simplex 5B, with muscular dystrophy
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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/226670"> 226670 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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PLEC1
|
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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/601282"> 601282 </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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/226670" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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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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<a href="/phenotypicSeries/PS131760" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
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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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/226670" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/226670" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
|
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|
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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">
|
|
<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Restricted eye movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807947</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Oral mucosal blisters <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853945</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200097</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dental caries (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Infantile respiratory distress (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179627006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179627006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4281993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4281993</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002643</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Larynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scarring anterior commissure of larynx (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677923</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urethral strictures (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236647003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236647003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76618002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76618002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N35.919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35.919</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/598.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">598.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">598</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041974</a>, <a href="https://bioportal.bioontology.org/search?q=C4551691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012227" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012227</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008661</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Blistering, generalized, with friction or minor trauma (neonatal onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677920</a>]</span><br /> -
|
|
Scarring (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48677004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48677004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275322007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275322007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12402003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12402003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2004491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2004491</a>, <a href="https://bioportal.bioontology.org/search?q=C0008767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008767</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100699</a>]</span><br /> -
|
|
Palmoplantar keratosis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/706885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">706885006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L85.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L85.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022596</a>, <a href="https://bioportal.bioontology.org/search?q=C4551675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000982</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Reduced or absent staining with anti-plectin antibody <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677921</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intraepidermal cleavage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677922</a>]</span><br /> -
|
|
Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856944</a>]</span><br /> -
|
|
Hypoplastic hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856945</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nail dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scarring alopecia of scalp (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004552</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Progressive muscular dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73297009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73297009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193225000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193225000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G71.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G71.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026850</a>, <a href="https://bioportal.bioontology.org/search?q=C4551827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551827</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003560" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003560</a>]</span><br /> -
|
|
Markedly variable fiber diameters <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677919</a>]</span><br /> -
|
|
Myofibrillar disorganization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278537</a>]</span><br /> -
|
|
Degenerative changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107669003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107669003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011164&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011164</a>]</span><br /> -
|
|
Increased connective tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009025</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> VOICE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hoarse voice (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50219008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50219008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Neonatal onset of blistering<br /> -
|
|
Variable onset of muscular dystrophy (infancy to young adult)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the plectin gene (PLEC1, <a href="/entry/601282#0001">601282.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epidermolysis bullosa simplex
|
|
- <a href="/phenotypicSeries/PS131760">PS131760</a>
|
|
- 18 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/900?start=-3&limit=10&highlight=900"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617294"> Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617294"> 617294 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611295"> KLHL24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611295"> 611295 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/611?start=-3&limit=10&highlight=611"> 6p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615425"> Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615425"> 615425 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> DST </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> 113810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612138"> Epidermolysis bullosa simplex 5C, with pyloric atresia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612138"> 612138 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226670"> Epidermolysis bullosa simplex 5B, with muscular dystrophy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226670"> 226670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616487"> ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616487"> 616487 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131950"> Epidermolysis bullosa simplex 5A, Ogna type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131950"> 131950 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> PLEC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601282"> 601282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/48?start=-3&limit=10&highlight=48"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609057"> Epidermolysis bullosa simplex 7, with nephropathy and deafness </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609057"> 609057 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602243"> CD151 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602243"> 602243 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/899?start=-3&limit=10&highlight=899"> 11q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615028"> Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615028"> 615028 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612878"> EXPH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612878"> 612878 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619594"> Epidermolysis bullosa simplex 2C, localized </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619594"> 619594 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609352"> Epidermolysis bullosa simplex 2E, with migratory circinate erythema </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609352"> 609352 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619588"> Epidermolysis bullosa simplex 2B, generalized intermediate </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619588"> 619588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131960"> Epidermolysis bullosa simplex 2F, with mottled pigmentation </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131960"> 131960 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619555"> Epidermolysis bullosa simplex 2A, generalized severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619555"> 619555 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619599"> Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619599"> 619599 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<a href="/entry/601001"> Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive </a>
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<p>A number sign (#) is used with this entry because of evidence that epidermolysis bullosa simplex 5B with muscular dystrophy (EBS5B) is caused by homozygous or compound heterozygous mutation in the plectin gene (PLEC; <a href="/entry/601282">601282</a>) on chromosome 8q24.</p>
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<p>Epidermolysis bullosa simplex with muscular dystrophy (EBS5B) is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (<a href="#9" class="mim-tip-reference" title="Fine, J.-D., Stenn, J., Johnson, L., Wright, T., Bock, H.-G. O., Horiguchi, Y. <strong>Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.</strong> Arch. Derm. 125: 931-938, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2662909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2662909</a>] [<a href="https://doi.org/10.1001/archderm.125.7.931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2662909">Fine et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2662909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Fine, J.-D., Bauer, E. A., Briggaman, R. A., Carter, D. M., Eady, R. A. J., Esterly, N. B., Holbrook, K. A., Hurwitz, S., Johnson, L., Lin, A., Pearson, R., Sybert, V. P. <strong>Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry.</strong> J. Am. Acad. Derm. 24: 119-135, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999509</a>] [<a href="https://doi.org/10.1016/0190-9622(91)70021-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999509">Fine et al. (1991)</a> reported a revised classification of the subtypes of inherited epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999509" 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 reports of 2 consensus meetings on EB, Fine et al. (<a href="#8" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J. <strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong> J. Am. Acad. Derm. 42: 1051-1066, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827412</a>]" pmid="10827412">2000</a>, <a href="#7" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G. <strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong> J. Am. Acad. Derm. 58: 931-950, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18374450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18374450</a>] [<a href="https://doi.org/10.1016/j.jaad.2008.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18374450">2008</a>) referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. Fine et al. (<a href="#8" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Briggaman, R. A., Bruckner-Tuderman, L., Christiano, A., Heagerty, A., Hintner, H., Jonkman, M. F., McGrath, J., McGuire, J., Moshell, A., Shimizu, H., Tadini, G., Uitto, J. <strong>Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.</strong> J. Am. Acad. Derm. 42: 1051-1066, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827412</a>]" pmid="10827412">2000</a>, <a href="#7" class="mim-tip-reference" title="Fine, J.-D., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., McGrath, J. A., Mellerio, J. E., Murrell, D. F., Shimizu, H., Uitto, J., Vahlquist, A., Woodley, D., Zambruno, G. <strong>The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB.</strong> J. Am. Acad. Derm. 58: 931-950, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18374450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18374450</a>] [<a href="https://doi.org/10.1016/j.jaad.2008.02.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18374450">2008</a>) also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity (<a href="#20" class="mim-tip-reference" title="Uitto, J., Pulkkinen, L., McLean, W. H. I. <strong>Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.</strong> Molec. Med. Today 3: 457-465, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9358473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9358473</a>] [<a href="https://doi.org/10.1016/s1357-4310(97)01112-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9358473">Uitto et al., 1997</a>) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9358473+18374450+10827412" 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>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (<a href="/entry/131760">131760</a>).</p>
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<p><a href="#13" class="mim-tip-reference" title="Niemi, K.-M., Sommer, H., Kero, M., Kanerva, L., Haltia, M. <strong>Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.</strong> Arch. Derm. 124: 551-554, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3355199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3355199</a>]" pmid="3355199">Niemi et al. (1988)</a> described a Finnish sibship with normal parents and 12 members, of which 2, a brother and sister who survived to adulthood, had the combination of epidermolysis bullosa and muscular dystrophy of the limb-girdle type (see <a href="/entry/253600">253600</a>). Two male sibs died early from severe skin disease. The skin disease was thought to be of the same type as that for which <a href="#15" class="mim-tip-reference" title="Salih, M. A. M., Lake, B. D., El Hag, M. A., Atherton, D. J. <strong>Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa.</strong> Brit. J. Derm. 113: 135-143, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4027181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4027181</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1985.tb02055.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4027181">Salih et al. (1985)</a> reported autosomal recessive inheritance. The parents came from the same small village; thus, the likelihood of heterozygosity for the same gene(s) is high, although consanguinity could not be proved. The combination may represent the coincidence of 2 recessive disorders, which may be closely linked. An alternative possibility is that this represents a pleiotropic syndrome. Favoring the latter possibility is the fact that <a href="#4" class="mim-tip-reference" title="De Weerdt, C. J., Castelein, S. <strong>Het vorkommen van epidermolys bullosa hereditaria dystrophica en progressieve spierdystrofie in een gezin.</strong> Nederl. T. Geneesk. 116: 1264-1268, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5041295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5041295</a>]" pmid="5041295">De Weerdt and Castelein (1972)</a> described a family with the same combination in a pattern of autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4027181+5041295+3355199" 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="Fine, J.-D., Stenn, J., Johnson, L., Wright, T., Bock, H.-G. O., Horiguchi, Y. <strong>Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.</strong> Arch. Derm. 125: 931-938, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2662909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2662909</a>] [<a href="https://doi.org/10.1001/archderm.125.7.931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2662909">Fine et al. (1989)</a> described 2 families in which offspring of consanguineous matings had epidermolysis bullosa simplex with features suggestive of junctional or dystrophic epidermolysis bullosa and association with neuromuscular disease. Two patients in the first family had, from birth, a severe blistering disorder with atrophic scarring, nail dystrophy, and scalp alopecia, as well as oral cavity involvement. In the second family a pair of unlike-sex twins, aged 43, were described. The female twin had congenital myasthenia gravis that had been treated by thymectomy. Although the male cotwin did not have myasthenia, congenital myasthenia gravis was present in another brother and in a maternal first cousin, both of whom did not have epidermolysis bullosa. Thus, the myasthenia was probably an independent finding. Marked growth retardation and anemia were also present in the first family reported by <a href="#9" class="mim-tip-reference" title="Fine, J.-D., Stenn, J., Johnson, L., Wright, T., Bock, H.-G. O., Horiguchi, Y. <strong>Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.</strong> Arch. Derm. 125: 931-938, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2662909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2662909</a>] [<a href="https://doi.org/10.1001/archderm.125.7.931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2662909">Fine et al. (1989)</a>. <a href="#1" class="mim-tip-reference" title="Abanmi, A., Joshi, R. K., Atukorala, D. N., Pedersen, N. B., Al Khamis, O. <strong>Autosomal recessive epidermolysis bullosa simplex: a case report.</strong> Brit. J. Derm. 130: 115-117, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8305300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8305300</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1994.tb06895.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8305300">Abanmi et al. (1994)</a> reported growth retardation and anemia in association with autosomal recessive epidermolysis bullosa simplex in an inbred Saudi family with 5 affected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2662909+8305300" 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>The 3 patients studied by <a href="#10" class="mim-tip-reference" title="Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J. P. <strong>Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.</strong> J. Clin. Invest. 97: 2289-2298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636409</a>] [<a href="https://doi.org/10.1172/JCI118671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636409">Gache et al. (1996)</a> were from 2 unrelated families. Two were sisters in their late twenties, the product of a consanguineous union. They had another affected sister out of a total of 11 sibs who died shortly after birth. The third patient had previously been reported by <a href="#5" class="mim-tip-reference" title="Doriguzzi, C., Palmucci, L., Mongini, T., Bertolotto, A., Maniscalco, M., Chiado-Piat, L., Zina, A. M., Bundino, S. <strong>Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.</strong> Europ. Neurol. 33: 454-460, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307068</a>] [<a href="https://doi.org/10.1159/000116993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8307068">Doriguzzi et al. (1993)</a>. This was a male in his late twenties, born of nonconsanguineous healthy parents, who had epidermolysis bullosa and a severe, slowly progressive muscle disease. Two of his brothers presented at birth with a bullous skin disease that proved fatal in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8636409+8307068" 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="#12" class="mim-tip-reference" title="McLean, W. H. I., Pulkkinen, L., Smith, F. J. D., Rugg, E. L., Lane, E. B., Bullrich, F., Burgeson, R. E., Amano, S., Hudson, D. L., Owaribe, K., McGrath, J. A., McMillan, J. R., Eady, R. A. J., Leigh, I. M., Christiano, A. M., Uitto, J. <strong>Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.</strong> Genes Dev. 10: 1724-1735, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698233</a>] [<a href="https://doi.org/10.1101/gad.10.14.1724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698233">McLean et al. (1996)</a> described a 24-year-old Hispanic man with MD-EBS and mutation in the PLEC gene. He developed blisters on the feet, back, thighs, and face at 10 days of age. Blisters continued to recur at sites of mechanical trauma and healed with atrophic scarring. Additionally he had nail dystrophy and dental abnormalities. Development was normal until age 10 years, when stair climbing became difficult and he stopped running. His upper limbs soon became involved and he was unable to comb his hair. By age 13 years he had become permanently confined to a wheelchair. Intelligence was normal, and he graduated from high school and took college courses. Electron microscopy revealed poorly formed hemidesmosomes along the roof of blisters, with a portion of the hemidesmosome remaining attached to the base of the blister. Tonofilaments made no contact with hemidesmosomes. Electromyograph revealed long-standing neuromuscular disease, and muscle biopsy showed group atrophy of muscle fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698233" 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="#14" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> reported ultrastructural studies of plectin in 2 probands from different families with epidermolysis bullosa-muscular dystrophy. In both families the probands were offspring of consanguineous unions. Blistering was first noted in the neonatal period and the blistering tendency continued throughout life. A progressive muscular weakness was noted which commenced in the third decade. Immunofluorescence revealed attenuated plectin expression. <a href="#14" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> reported that histopathology indicated dermal-epidermal blister formation and that transmission electron microscopy revealed tissue separation at the level of the hemidesmosomal attachment plaque. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8894687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Banwell, B. L., Russel, J., Fukudome, T., Shen, X.-M., Stilling, G., Engel, A. G. <strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong> J. Neuropath. Exp. Neurol. 58: 832-846, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446808</a>] [<a href="https://doi.org/10.1097/00005072-199908000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10446808">Banwell et al. (1999)</a> reported a 20-year-old African American woman with epidermolysis bullosa simplex since birth and progressive ocular, facial, limb, and truncal weakness and fatigability since age 9 years. Laboratory studies showed increased creatine kinase, and electromyography showed a 25% decrement in responses to repetitive stimulation, consistent with a myasthenic syndrome. There were no antiacetylcholine receptor (AChR) antibodies. Muscle biopsy showed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities, including large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, loss of thick filaments, and vacuolar change. Many endplates had an abnormal configuration with chains of small regions over the fiber surface and a few endplates displayed focal degeneration of the junctional folds. In vitro electrophysiologic studies showed normal quantal release, small miniature endplate potentials, and fetal as well as adult AChR channels. Plectin expression was absent in muscle and severe plectin deficiency was noted in skin. <a href="#2" class="mim-tip-reference" title="Banwell, B. L., Russel, J., Fukudome, T., Shen, X.-M., Stilling, G., Engel, A. G. <strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong> J. Neuropath. Exp. Neurol. 58: 832-846, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446808</a>] [<a href="https://doi.org/10.1097/00005072-199908000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10446808">Banwell et al. (1999)</a> suggested that plectin is essential for the structural integrity of muscle and skin, as well as for normal neuromuscular transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10446808" 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="Bolling, M. C., Pas, H. H., de Visser, M., Aronica, E., Pfendner, E. G., van den Berg, M. P., Diercks, G. F. H., Suurmeijer, A. J. H., Jonkman, M. F. <strong>PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. (Letter)</strong> J. Invest. Derm. 130: 1178-1181, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20016501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20016501</a>] [<a href="https://doi.org/10.1038/jid.2009.390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20016501">Bolling et al. (2010)</a> reported a 40-year-old man who was compound heterozygous for a missense mutation (R323Q) and a nonsense mutation (E1614X) in the PLEC1 gene. The patient had lifelong skin blistering with an intradermal split as well as nail dystrophy, and developed shoulder girdle and upper extremity weakness in the third decade of life. At age 30, preoperative evaluation for excision of a large lipoma revealed a left ventricular dilated cardiomyopathy; cardiomyopathy was subsequently confirmed by septal biopsy showing fibrosis and atrophic fibers. While the patient was asymptomatic, electrocardiography showed frequent ectopic beats, including bouts of nonsustained ventricular tachycardia. His 31-year-old sister had similar skin features but declined further evaluation. Their unaffected parents were each heterozygous for 1 of the mutations. <a href="#3" class="mim-tip-reference" title="Bolling, M. C., Pas, H. H., de Visser, M., Aronica, E., Pfendner, E. G., van den Berg, M. P., Diercks, G. F. H., Suurmeijer, A. J. H., Jonkman, M. F. <strong>PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. (Letter)</strong> J. Invest. Derm. 130: 1178-1181, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20016501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20016501</a>] [<a href="https://doi.org/10.1038/jid.2009.390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20016501">Bolling et al. (2010)</a> stated that this was the second case of cardiomyopathy that could be attributed to PLEC1 mutations, citing <a href="#16" class="mim-tip-reference" title="Schroder, R., Kunz, W. S., Rouan, F., Pfendner, E., Tolksdorf, K., Kappes-Horn, K., Altenschmidt-Mehring, M., Knoblich, R., van der Ven, P. F., Reimann, J., Furst, D. O., Blumcke, I., Vielhaber, S., Zillikens, D., Eming, S., Klockgether, T., Uitto, J., Wiche, G., Rolfs, A. <strong>Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.</strong> J. Neuropath. Exp. Neurol. 61: 520-530, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12071635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12071635</a>] [<a href="https://doi.org/10.1093/jnen/61.6.520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12071635">Schroder et al. (2002)</a>, who described a 25-year-old woman with EBS and muscular dystrophy as well as asymptomatic left ventricular hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20016501+12071635" 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="#17" class="mim-tip-reference" title="Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. <strong>Myasthenic syndrome caused by plectinopathy.</strong> Neurology 76: 327-336, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21263134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21263134</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21263134[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21263134">Selcen et al. (2011)</a> reported another African American patient with EBS and a myasthenic syndrome. He developed skin vesicular skin eruptions at age 6 weeks, and muscle weakness and fatigue at age 3 years. The myopathy was progressive: he had ptosis and facial weakness, became wheelchair-bound by age 18 years, respirator-dependent by age 26, had a gastrostomy at age 35, and died of pneumonia at age 42. His cognitive function and cardiac status were normal. Muscle studies at age 12 showed necrotic and regenerating fibers, and electromyography at age 15 showed a myasthenic syndrome. Detailed muscle studies in his adult life showed variation in fiber size, type 1 fiber predominance, internal nuclei, and subsarcolemmal calcium deposits. Many nuclei were larger than normal, appeared in subsarcolemmal rows or clusters, and contained prominent chromatin bodies. There was loss of plectin immunoreactivity. The endplates had abnormal conformation with loss of cytoskeletal support of the junctional folds. These factors were predicted to decrease quantal efficacy and compromise the safety margin of neuromuscular transmission, resulting in myasthenic symptoms. Genetic analysis identified compound heterozygous mutations in the PLEC1 gene in this patient and the patient reported by <a href="#2" class="mim-tip-reference" title="Banwell, B. L., Russel, J., Fukudome, T., Shen, X.-M., Stilling, G., Engel, A. G. <strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong> J. Neuropath. Exp. Neurol. 58: 832-846, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446808</a>] [<a href="https://doi.org/10.1097/00005072-199908000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10446808">Banwell et al. (1999)</a> (<a href="/entry/601282#0011">601282.0011</a>-<a href="/entry/601282#0013">601282.0013</a>). <a href="#17" class="mim-tip-reference" title="Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. <strong>Myasthenic syndrome caused by plectinopathy.</strong> Neurology 76: 327-336, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21263134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21263134</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21263134[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21263134">Selcen et al. (2011)</a> concluded that the myasthenic features could be attributed to destruction of the junctional folds and the myopathy to defective anchoring of muscle fiber organelles and defects in sarcolemmal integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21263134+10446808" 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 EBS5B in the families reported by <a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696340" 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="#10" class="mim-tip-reference" title="Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J. P. <strong>Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.</strong> J. Clin. Invest. 97: 2289-2298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636409</a>] [<a href="https://doi.org/10.1172/JCI118671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636409">Gache et al. (1996)</a> found that skin samples from 3 MD-EBS patients did not react with 3 antibodies raised against the intermediate filament-associated protein plectin. Immunofluorescence and Western analysis of explanted MD-EBS keratinocytes confirmed a deficiency in expression of plectin, correlated with an impaired interaction of the keratin cytoskeleton with the hemidesmosomes in affected skin. Consistent with lack of reactivity of MD-EBS skin to plectin antibodies, plectin was not detected in skeletal muscles of these patients. Impaired expression of plectin in muscle correlated with an altered labeling pattern of the muscle intermediate filament protein desmin (<a href="/entry/125660">125660</a>). <a href="#10" class="mim-tip-reference" title="Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J. P. <strong>Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.</strong> J. Clin. Invest. 97: 2289-2298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636409</a>] [<a href="https://doi.org/10.1172/JCI118671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636409">Gache et al. (1996)</a> also observed a deficient immunoreactivity with a monoclonal antibody raised against the hemidesmosomal protein HD1 (see <a href="#11" class="mim-tip-reference" title="Hieda, Y., Nishizawa, Y., Uematsu, J., Owaribe, K. <strong>Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes.</strong> J. Cell Biol. 116: 1497-1506, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1541639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1541639</a>] [<a href="https://doi.org/10.1083/jcb.116.6.1497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1541639">Hieda et al., 1992</a>). Furthermore, <a href="#10" class="mim-tip-reference" title="Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J. P. <strong>Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.</strong> J. Clin. Invest. 97: 2289-2298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636409</a>] [<a href="https://doi.org/10.1172/JCI118671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636409">Gache et al. (1996)</a> found by immunofluorescence analysis that HD1 is expressed in Z lines in normal skeletal muscle, whereas this expression was deficient in patient muscle. Colocalization of HD1 and plectin in normal skin and muscle, together with their impaired expression in MD-EBS tissues, strongly suggested that plectin and HD1 are closely related proteins. It appears from these findings that defective expression of plectin results in an aberrant anchorage of cytoskeletal structures in keratinocytes and muscle fibers leading to cell fragility. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8636409+1541639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> reported results indicating that mutation in the plectin gene is the cause of autosomal recessive muscular dystrophy associated with epidermolysis bullosa simplex. In affected members of 4 families, absence of plectin was indicated by antibody staining. The disease segregated with markers in the 8q24.13-qter region where the plectin gene maps, and a homozygous frameshift mutation (<a href="/entry/601282#0001">601282.0001</a>) was detected in plectin cDNA. <a href="#19" class="mim-tip-reference" title="Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B. <strong>Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.</strong> Nature Genet. 13: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696340</a>] [<a href="https://doi.org/10.1038/ng0896-450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696340">Smith et al. (1996)</a> stated that absence of the large multifunctional cytoskeleton protein plectin could account for structural failure in both muscle and skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696340" 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 24-year-old Hispanic man with MD-EBS, <a href="#12" class="mim-tip-reference" title="McLean, W. H. I., Pulkkinen, L., Smith, F. J. D., Rugg, E. L., Lane, E. B., Bullrich, F., Burgeson, R. E., Amano, S., Hudson, D. L., Owaribe, K., McGrath, J. A., McMillan, J. R., Eady, R. A. J., Leigh, I. M., Christiano, A. M., Uitto, J. <strong>Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.</strong> Genes Dev. 10: 1724-1735, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698233</a>] [<a href="https://doi.org/10.1101/gad.10.14.1724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698233">McLean et al. (1996)</a> identified homozygosity for a 1-bp deletion in the PLEC gene (<a href="/entry/601282#0004">601282.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698233" 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 proband and her affected sister with EBSMD, <a href="#14" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> detected a homozygous 9-bp deletion in exon 22 (2719del9; <a href="/entry/601282#0002">601282.0002</a>) of the plectin gene. The proband in a second family demonstrated a single nucleotide deletion (5866delC; <a href="/entry/601282#0003">601282.0003</a>) that resulted in a frameshift and a premature termination codon 16 bp downstream of the mutation. <a href="#14" class="mim-tip-reference" title="Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., Uitto, J. <strong>Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.</strong> Hum. Molec. Genet. 5: 1539-1546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894687</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894687">Pulkkinen et al. (1996)</a> concluded that plectin is critical for binding of the intermediate keratin filament network to hemidesmosomal complexes. They also postulated that plectin functions in muscle as a putative attachment protein mediating binding of actin to membrane complexes; these functions of plectin would explain the phenotype of cutaneous fragility and muscular weakness in patients with reduced or abnormal plectin expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8894687" 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="#18" class="mim-tip-reference" title="Shimizu, H., Takizawa, Y., Pulkkinen, L., Murata, S., Kawai, M., Hachisuka, H., Udono, M., Uitto, J., Nishikawa, T. <strong>Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.</strong> J. Am. Acad. Derm. 41: 950-956, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10570379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10570379</a>] [<a href="https://doi.org/10.1016/s0190-9622(99)70252-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10570379">Shimizu et al. (1999)</a> attempted phenotype-genotype correlations in cases of MD-EBS. Clinical, ultrastructural, immunohistochemical, and molecular features of 4 unrelated Japanese patients were recorded. In addition, 6 cases with defined plectin gene mutations reported in the literature were reviewed. All 10 patients showed generalized blistering at birth or soon thereafter, and experienced deformities of the nails. In addition, decayed teeth (5 cases), urethral strictures (3), mild palmoplantar hyperkeratosis (2), infantile respiratory complications (2), alopecia (1), and laryngeal webs (1) were present. All 8 patients who were older than 9 years demonstrated considerable muscle weakness, and most of them ended up being wheelchair-bound. Among the 10 patients, 7 were products of consanguineous marriage, 9 had a premature termination codon mutation in each allele of the plectin gene, and in 7 of these the mutation was homozygous. One patient was homozygous for a 2719del9 in-frame deletion mutation that resulted in elimination of 3 amino acids, gln-glu-ala (QEA), could still walk at the age of 46, and showed mild clinical severity. This patient showed positive, yet attenuated, plectin expression. Thus, plectin immunofluorescence, combined with identification of the underlying plectin mutations, is of value in predicting the severity of the muscle involvement that occurs later in life in patients with MD-EBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10570379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Abanmi1994" class="mim-anchor"></a>
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Abanmi, A., Joshi, R. K., Atukorala, D. N., Pedersen, N. B., Al Khamis, O.
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<strong>Autosomal recessive epidermolysis bullosa simplex: a case report.</strong>
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Brit. J. Derm. 130: 115-117, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8305300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8305300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8305300" 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.1365-2133.1994.tb06895.x" target="_blank">Full Text</a>]
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Banwell, B. L., Russel, J., Fukudome, T., Shen, X.-M., Stilling, G., Engel, A. G.
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<strong>Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.</strong>
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J. Neuropath. Exp. Neurol. 58: 832-846, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10446808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10446808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10446808" 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/10.1097/00005072-199908000-00006" target="_blank">Full Text</a>]
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Bolling, M. C., Pas, H. H., de Visser, M., Aronica, E., Pfendner, E. G., van den Berg, M. P., Diercks, G. F. H., Suurmeijer, A. J. H., Jonkman, M. F.
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<strong>PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. (Letter)</strong>
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J. Invest. Derm. 130: 1178-1181, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20016501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20016501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20016501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2009.390" target="_blank">Full Text</a>]
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De Weerdt, C. J., Castelein, S.
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<strong>Het vorkommen van epidermolys bullosa hereditaria dystrophica en progressieve spierdystrofie in een gezin.</strong>
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Nederl. T. Geneesk. 116: 1264-1268, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5041295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5041295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5041295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Doriguzzi, C., Palmucci, L., Mongini, T., Bertolotto, A., Maniscalco, M., Chiado-Piat, L., Zina, A. M., Bundino, S.
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<strong>Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.</strong>
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Europ. Neurol. 33: 454-460, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8307068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8307068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8307068" 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/10.1159/000116993" target="_blank">Full Text</a>]
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Fine, J.-D., Bauer, E. A., Briggaman, R. A., Carter, D. M., Eady, R. A. J., Esterly, N. B., Holbrook, K. A., Hurwitz, S., Johnson, L., Lin, A., Pearson, R., Sybert, V. P.
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<strong>Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry.</strong>
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J. Am. Acad. Derm. 24: 119-135, 1991.
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[<a href="https://doi.org/10.1016/0190-9622(91)70021-s" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.jaad.2008.02.004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archderm.125.7.931" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI118671" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1083/jcb.116.6.1497" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.10.14.1724" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/5.10.1539" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1985.tb02055.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/jnen/61.6.520" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e31820882bd" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0190-9622(99)70252-5" target="_blank">Full Text</a>]
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Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., de Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I., Lane, E. B.
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[<a href="https://doi.org/10.1038/ng0896-450" target="_blank">Full Text</a>]
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Uitto, J., Pulkkinen, L., McLean, W. H. I.
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<strong>Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.</strong>
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[<a href="https://doi.org/10.1016/s1357-4310(97)01112-x" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 11/05/2021
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Marla J. F. O'Neill - updated : 7/27/2015<br>Cassandra L. Kniffin - updated : 3/10/2011<br>Cassandra L. Kniffin - updated : 7/1/2008<br>Marla J. F. O'Neill - updated : 8/31/2006<br>Victor A. McKusick - updated : 2/2/2000<br>Moyra Smith - updated : 11/4/1996<br>Moyra Smith - edited : 10/17/1996
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Victor A. McKusick : 5/17/1988
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alopez : 03/18/2022
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alopez : 11/05/2021<br>alopez : 11/01/2021<br>carol : 11/01/2021<br>alopez : 10/29/2021<br>carol : 01/08/2016<br>alopez : 7/28/2015<br>alopez : 7/27/2015<br>mcolton : 7/27/2015<br>terry : 4/12/2012<br>terry : 3/25/2011<br>wwang : 3/16/2011<br>ckniffin : 3/10/2011<br>carol : 7/7/2008<br>ckniffin : 7/1/2008<br>wwang : 9/1/2006<br>terry : 8/31/2006<br>alopez : 5/22/2003<br>alopez : 5/22/2003<br>mcapotos : 2/17/2000<br>mcapotos : 2/16/2000<br>terry : 2/2/2000<br>mark : 11/4/1996<br>mark : 10/17/1996<br>mark : 8/7/1996<br>terry : 8/1/1996<br>terry : 6/21/1996<br>mark : 6/17/1996<br>terry : 6/11/1996<br>carol : 3/16/1994<br>mimadm : 2/19/1994<br>carol : 4/1/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<strong>#</strong> 226670
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EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B
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<em>Alternative titles; symbols</em>
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EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD<br />
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EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY<br />
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MD-EBS; MDEBS
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<strong>SNOMEDCT:</strong> 723308003;
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<strong>ORPHA:</strong> 257;
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<strong>DO:</strong> 0090017;
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<strong>Phenotype-Gene Relationships</strong>
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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 <br /> MIM number
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8q24.3
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Epidermolysis bullosa simplex 5B, with muscular dystrophy
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226670
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Autosomal recessive
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3
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PLEC1
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601282
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that epidermolysis bullosa simplex 5B with muscular dystrophy (EBS5B) is caused by homozygous or compound heterozygous mutation in the plectin gene (PLEC; 601282) on chromosome 8q24.</p>
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<strong>Description</strong>
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<p>Epidermolysis bullosa simplex with muscular dystrophy (EBS5B) is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (Fine et al., 1989). </p><p>Fine et al. (1991) reported a revised classification of the subtypes of inherited epidermolysis bullosa. </p><p>In reports of 2 consensus meetings on EB, Fine et al. (2000, 2008) referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity (Uitto et al., 1997) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes. </p><p>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).</p>
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<strong>Clinical Features</strong>
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<p>Niemi et al. (1988) described a Finnish sibship with normal parents and 12 members, of which 2, a brother and sister who survived to adulthood, had the combination of epidermolysis bullosa and muscular dystrophy of the limb-girdle type (see 253600). Two male sibs died early from severe skin disease. The skin disease was thought to be of the same type as that for which Salih et al. (1985) reported autosomal recessive inheritance. The parents came from the same small village; thus, the likelihood of heterozygosity for the same gene(s) is high, although consanguinity could not be proved. The combination may represent the coincidence of 2 recessive disorders, which may be closely linked. An alternative possibility is that this represents a pleiotropic syndrome. Favoring the latter possibility is the fact that De Weerdt and Castelein (1972) described a family with the same combination in a pattern of autosomal recessive inheritance. </p><p>Fine et al. (1989) described 2 families in which offspring of consanguineous matings had epidermolysis bullosa simplex with features suggestive of junctional or dystrophic epidermolysis bullosa and association with neuromuscular disease. Two patients in the first family had, from birth, a severe blistering disorder with atrophic scarring, nail dystrophy, and scalp alopecia, as well as oral cavity involvement. In the second family a pair of unlike-sex twins, aged 43, were described. The female twin had congenital myasthenia gravis that had been treated by thymectomy. Although the male cotwin did not have myasthenia, congenital myasthenia gravis was present in another brother and in a maternal first cousin, both of whom did not have epidermolysis bullosa. Thus, the myasthenia was probably an independent finding. Marked growth retardation and anemia were also present in the first family reported by Fine et al. (1989). Abanmi et al. (1994) reported growth retardation and anemia in association with autosomal recessive epidermolysis bullosa simplex in an inbred Saudi family with 5 affected sibs. </p><p>The 3 patients studied by Gache et al. (1996) were from 2 unrelated families. Two were sisters in their late twenties, the product of a consanguineous union. They had another affected sister out of a total of 11 sibs who died shortly after birth. The third patient had previously been reported by Doriguzzi et al. (1993). This was a male in his late twenties, born of nonconsanguineous healthy parents, who had epidermolysis bullosa and a severe, slowly progressive muscle disease. Two of his brothers presented at birth with a bullous skin disease that proved fatal in early infancy. </p><p>McLean et al. (1996) described a 24-year-old Hispanic man with MD-EBS and mutation in the PLEC gene. He developed blisters on the feet, back, thighs, and face at 10 days of age. Blisters continued to recur at sites of mechanical trauma and healed with atrophic scarring. Additionally he had nail dystrophy and dental abnormalities. Development was normal until age 10 years, when stair climbing became difficult and he stopped running. His upper limbs soon became involved and he was unable to comb his hair. By age 13 years he had become permanently confined to a wheelchair. Intelligence was normal, and he graduated from high school and took college courses. Electron microscopy revealed poorly formed hemidesmosomes along the roof of blisters, with a portion of the hemidesmosome remaining attached to the base of the blister. Tonofilaments made no contact with hemidesmosomes. Electromyograph revealed long-standing neuromuscular disease, and muscle biopsy showed group atrophy of muscle fibers. </p><p>Pulkkinen et al. (1996) reported ultrastructural studies of plectin in 2 probands from different families with epidermolysis bullosa-muscular dystrophy. In both families the probands were offspring of consanguineous unions. Blistering was first noted in the neonatal period and the blistering tendency continued throughout life. A progressive muscular weakness was noted which commenced in the third decade. Immunofluorescence revealed attenuated plectin expression. Pulkkinen et al. (1996) reported that histopathology indicated dermal-epidermal blister formation and that transmission electron microscopy revealed tissue separation at the level of the hemidesmosomal attachment plaque. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Banwell et al. (1999) reported a 20-year-old African American woman with epidermolysis bullosa simplex since birth and progressive ocular, facial, limb, and truncal weakness and fatigability since age 9 years. Laboratory studies showed increased creatine kinase, and electromyography showed a 25% decrement in responses to repetitive stimulation, consistent with a myasthenic syndrome. There were no antiacetylcholine receptor (AChR) antibodies. Muscle biopsy showed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities, including large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, loss of thick filaments, and vacuolar change. Many endplates had an abnormal configuration with chains of small regions over the fiber surface and a few endplates displayed focal degeneration of the junctional folds. In vitro electrophysiologic studies showed normal quantal release, small miniature endplate potentials, and fetal as well as adult AChR channels. Plectin expression was absent in muscle and severe plectin deficiency was noted in skin. Banwell et al. (1999) suggested that plectin is essential for the structural integrity of muscle and skin, as well as for normal neuromuscular transmission. </p><p>Bolling et al. (2010) reported a 40-year-old man who was compound heterozygous for a missense mutation (R323Q) and a nonsense mutation (E1614X) in the PLEC1 gene. The patient had lifelong skin blistering with an intradermal split as well as nail dystrophy, and developed shoulder girdle and upper extremity weakness in the third decade of life. At age 30, preoperative evaluation for excision of a large lipoma revealed a left ventricular dilated cardiomyopathy; cardiomyopathy was subsequently confirmed by septal biopsy showing fibrosis and atrophic fibers. While the patient was asymptomatic, electrocardiography showed frequent ectopic beats, including bouts of nonsustained ventricular tachycardia. His 31-year-old sister had similar skin features but declined further evaluation. Their unaffected parents were each heterozygous for 1 of the mutations. Bolling et al. (2010) stated that this was the second case of cardiomyopathy that could be attributed to PLEC1 mutations, citing Schroder et al. (2002), who described a 25-year-old woman with EBS and muscular dystrophy as well as asymptomatic left ventricular hypertrophy. </p><p>Selcen et al. (2011) reported another African American patient with EBS and a myasthenic syndrome. He developed skin vesicular skin eruptions at age 6 weeks, and muscle weakness and fatigue at age 3 years. The myopathy was progressive: he had ptosis and facial weakness, became wheelchair-bound by age 18 years, respirator-dependent by age 26, had a gastrostomy at age 35, and died of pneumonia at age 42. His cognitive function and cardiac status were normal. Muscle studies at age 12 showed necrotic and regenerating fibers, and electromyography at age 15 showed a myasthenic syndrome. Detailed muscle studies in his adult life showed variation in fiber size, type 1 fiber predominance, internal nuclei, and subsarcolemmal calcium deposits. Many nuclei were larger than normal, appeared in subsarcolemmal rows or clusters, and contained prominent chromatin bodies. There was loss of plectin immunoreactivity. The endplates had abnormal conformation with loss of cytoskeletal support of the junctional folds. These factors were predicted to decrease quantal efficacy and compromise the safety margin of neuromuscular transmission, resulting in myasthenic symptoms. Genetic analysis identified compound heterozygous mutations in the PLEC1 gene in this patient and the patient reported by Banwell et al. (1999) (601282.0011-601282.0013). Selcen et al. (2011) concluded that the myasthenic features could be attributed to destruction of the junctional folds and the myopathy to defective anchoring of muscle fiber organelles and defects in sarcolemmal integrity. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EBS5B in the families reported by Smith et al. (1996) was consistent with autosomal recessive inheritance. </p>
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<strong>Biochemical Features</strong>
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<p>Gache et al. (1996) found that skin samples from 3 MD-EBS patients did not react with 3 antibodies raised against the intermediate filament-associated protein plectin. Immunofluorescence and Western analysis of explanted MD-EBS keratinocytes confirmed a deficiency in expression of plectin, correlated with an impaired interaction of the keratin cytoskeleton with the hemidesmosomes in affected skin. Consistent with lack of reactivity of MD-EBS skin to plectin antibodies, plectin was not detected in skeletal muscles of these patients. Impaired expression of plectin in muscle correlated with an altered labeling pattern of the muscle intermediate filament protein desmin (125660). Gache et al. (1996) also observed a deficient immunoreactivity with a monoclonal antibody raised against the hemidesmosomal protein HD1 (see Hieda et al., 1992). Furthermore, Gache et al. (1996) found by immunofluorescence analysis that HD1 is expressed in Z lines in normal skeletal muscle, whereas this expression was deficient in patient muscle. Colocalization of HD1 and plectin in normal skin and muscle, together with their impaired expression in MD-EBS tissues, strongly suggested that plectin and HD1 are closely related proteins. It appears from these findings that defective expression of plectin results in an aberrant anchorage of cytoskeletal structures in keratinocytes and muscle fibers leading to cell fragility. </p>
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<strong>Molecular Genetics</strong>
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<p>Smith et al. (1996) reported results indicating that mutation in the plectin gene is the cause of autosomal recessive muscular dystrophy associated with epidermolysis bullosa simplex. In affected members of 4 families, absence of plectin was indicated by antibody staining. The disease segregated with markers in the 8q24.13-qter region where the plectin gene maps, and a homozygous frameshift mutation (601282.0001) was detected in plectin cDNA. Smith et al. (1996) stated that absence of the large multifunctional cytoskeleton protein plectin could account for structural failure in both muscle and skin. </p><p>In a 24-year-old Hispanic man with MD-EBS, McLean et al. (1996) identified homozygosity for a 1-bp deletion in the PLEC gene (601282.0004). </p><p>In a proband and her affected sister with EBSMD, Pulkkinen et al. (1996) detected a homozygous 9-bp deletion in exon 22 (2719del9; 601282.0002) of the plectin gene. The proband in a second family demonstrated a single nucleotide deletion (5866delC; 601282.0003) that resulted in a frameshift and a premature termination codon 16 bp downstream of the mutation. Pulkkinen et al. (1996) concluded that plectin is critical for binding of the intermediate keratin filament network to hemidesmosomal complexes. They also postulated that plectin functions in muscle as a putative attachment protein mediating binding of actin to membrane complexes; these functions of plectin would explain the phenotype of cutaneous fragility and muscular weakness in patients with reduced or abnormal plectin expression. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Shimizu et al. (1999) attempted phenotype-genotype correlations in cases of MD-EBS. Clinical, ultrastructural, immunohistochemical, and molecular features of 4 unrelated Japanese patients were recorded. In addition, 6 cases with defined plectin gene mutations reported in the literature were reviewed. All 10 patients showed generalized blistering at birth or soon thereafter, and experienced deformities of the nails. In addition, decayed teeth (5 cases), urethral strictures (3), mild palmoplantar hyperkeratosis (2), infantile respiratory complications (2), alopecia (1), and laryngeal webs (1) were present. All 8 patients who were older than 9 years demonstrated considerable muscle weakness, and most of them ended up being wheelchair-bound. Among the 10 patients, 7 were products of consanguineous marriage, 9 had a premature termination codon mutation in each allele of the plectin gene, and in 7 of these the mutation was homozygous. One patient was homozygous for a 2719del9 in-frame deletion mutation that resulted in elimination of 3 amino acids, gln-glu-ala (QEA), could still walk at the age of 46, and showed mild clinical severity. This patient showed positive, yet attenuated, plectin expression. Thus, plectin immunofluorescence, combined with identification of the underlying plectin mutations, is of value in predicting the severity of the muscle involvement that occurs later in life in patients with MD-EBS. </p>
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<strong>REFERENCES</strong>
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Abanmi, A., Joshi, R. K., Atukorala, D. N., Pedersen, N. B., Al Khamis, O.
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<strong>Autosomal recessive epidermolysis bullosa simplex: a case report.</strong>
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Brit. J. Derm. 130: 115-117, 1994.
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[PubMed: 8305300]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1994.tb06895.x]
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Banwell, B. L., Russel, J., Fukudome, T., Shen, X.-M., Stilling, G., Engel, A. G.
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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