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Entry
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- #131900 - EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
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- OMIM
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<span class="h4">#131900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/131900"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<span class="small">
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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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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE" 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=11425&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/2583" 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=131900[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=79399" 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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<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://omia.org/results?search_type=advanced&omia_id=000340,002081,002082,002281" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79399<br />
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<strong>DO:</strong> 0080511<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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131900
|
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
|
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|
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EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
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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 1B, KOEBNER TYPE
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549">
|
|
17q21.2
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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">
|
|
Epidermolysis bullosa simplex 1B, generalized intermediate
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131900"> 131900 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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KRT14
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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/148066"> 148066 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/131900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/131900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/131900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Mouth </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
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- Oral mucosal blisters (with feeding, in some infants) <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 /> -
|
|
Labial blisters (with feeding, in some infants) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562891</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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<em> Skin </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Blistering, generalized, recurrent (occurs after mild physical trauma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751128&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008066</a>]</span><br /> -
|
|
Palmoplantar hyperkeratosis <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> 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> <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 /> -
|
|
Postinflammatory hyperpigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238699007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238699007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55519009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55519009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333616</a>]</span><br /> -
|
|
Lack of scarring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751130&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751130</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No clumping of keratin filaments in basal epidermal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751131</a>]</span><br /> -
|
|
Focal basal cell degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677892&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677892</a>]</span><br /> -
|
|
Separation of basal cells and immediately overlying suprabasal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677893&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677893</a>]</span><br />
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|
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</span>
|
|
</div>
|
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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> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset at birth or in early infancy<br /> -
|
|
Improvement with age<br /> -
|
|
Blistering becomes confined to the palms and soles with age<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the keratin 14 gene (KRT14, <a href="/entry/148066#0001">148066.0001</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>
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|
</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>
|
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</span>
|
|
</td>
|
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</tr>
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|
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|
<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">
|
|
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131800"> Epidermolysis bullosa simplex 1C, 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/131800"> 131800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> KRT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> 148066 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/549?start=-3&limit=10&highlight=549"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131760"> Epidermolysis bullosa simplex 1A, 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/131760"> 131760 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148066"> KRT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is caused by heterozygous mutation in the KRT14 gene (<a href="/entry/148066">148066</a>) on chromosome 17q21.</p><p>Another form of generalized intermediate EBS, EBS2B (<a href="/entry/619588">619588</a>), is caused by mutation in the KRT5 gene (<a href="/entry/148040">148040</a>).</p>
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<p>Generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by <a href="#12" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (<a href="/entry/131760">131760</a>).</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#7" 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> provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria. <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><a href="#8" 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">Fine et al. (2008)</a> reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18374450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al. (2020)</a> reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Passarge, E. <strong>Epidermolysis bullosa hereditaria simplex: a kindred affected in four generations.</strong> J. Pediat. 67: 819-825, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5845447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5845447</a>] [<a href="https://doi.org/10.1016/s0022-3476(65)80372-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5845447">Passarge (1965)</a> observed 21 affected persons in 4 generations of a family with generalized epidermolysis bullosa simplex. The inheritance pattern was autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5845447" 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="Humphries, M. M., Sheils, D., Lawler, M., Farrar, G. J., McWilliam, P., Kenna, P., Bradley, D. G., Sharp, E. M., Gaffney, E. F., Young, M., Uitto, J., Humphries, P. <strong>Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.</strong> Genomics 7: 377-381, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365356</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90171-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365356">Humphries et al. (1990)</a> studied a 3-generation Irish family in which 14 members had EBS of the Koebner type. All affected members had generalized blistering that healed without scarring. Onset on blistering was between 1 day and 8 months of age. Recurring blisters, particularly in the summer, were noted on soles and palms. Friction-induced blisters were also noted on the front of the knees, ankles, thighs, neck, arms, and waist. Some affected infants developed oral and labial blisters during feeding, and blisters induced by thumb-sucking were also observed. There was no dental or ungual involvement. <a href="#15" class="mim-tip-reference" title="Humphries, M. M., Sheils, D. M., Farrar, G. J., Kumar-Singh, R., Kenna, P. F., Mansergh, F. C., Jordan, S. A., Young, M., Humphries, P. <strong>A mutation (met-to-arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.</strong> Hum. Mutat. 2: 37-42, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7682883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7682883</a>] [<a href="https://doi.org/10.1002/humu.1380020107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7682883">Humphries et al. (1993)</a> detected mutation in the KRT14 gene in this family (see MOLECULAR GENETICS). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7682883+2365356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> reported a 3-generation family (family 2) with intermediate EBS and mutation in the KRT14 gene. The proband was a 13-year-old girl who presented in infancy with primarily acral blistering, with intermittent involvement of the arms, thighs, and neck. She had no scarring, milia, intraoral blisters, or nail dystrophy. Her father developed occasional blisters on his hands and feet after minor trauma, and also had hyperkeratosis of his soles. A first cousin had blisters on her hands, arms, legs, and face, and a paternal aunt and grandmother developed blisters after minor trauma to the hands and feet. Electron microscopy from representative family members revealed suprabasal clefting consistent with EBS, and the authors designated the overall familial phenotype to be that of the Koebner type of EBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Gu, L.-H., Ichiki, Y., Sato, M., Kitajima, Y. <strong>A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.</strong> J. Derm. 29: 136-145, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11990248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11990248</a>] [<a href="https://doi.org/10.1111/j.1346-8138.2002.tb00236.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11990248">Gu et al. (2002)</a> studied a Japanese mother and 2 sons with the Koebner type of EBS and mutation in the KRT14 gene. The 31-year-old proband developed blisters on her feet and knees at age 1 month. Generalized blistering continued to occur after minor mechanical trauma, mainly on the hands, feet, and limbs, but occasionally on the trunk. Healing resulted in postinflammatory hyperpigmentation but no scarring. Eyes, nails, and mucous membranes were normal, and she did not exhibit palmar or plantar hyperkeratosis. Both her sons, age 6 years and 2 years, were similarly affected. Histology of patient skin showed clefting through the basal layer; ultrastructural analysis revealed reduced and disorganized tonofilaments, characteristic of the Koebner type of EBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11990248" 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 EBS1B in the family reported by <a href="#1" class="mim-tip-reference" title="Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr. <strong>Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.</strong> Science 254: 1202-1205, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1720261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1720261</a>] [<a href="https://doi.org/10.1126/science.1720261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1720261">Bonifas et al. (1991)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1720261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with generalized epidermolysis bullosa simplex of the Koebner type, <a href="#2" class="mim-tip-reference" title="Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr. <strong>Identification of a keratin 14 mutation in a family with epidermolysis bullosa simplex. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): 399 only, 1991."None>Bonifas et al. (1991)</a> found linkage to markers on chromosome 17 and identified a heterozygous point mutation in the KRT14 gene (L384P; <a href="/entry/148066#0001">148066.0001</a>).</p><p>In affected members of a large Irish family (TCDG) with Koebner type generalized EBS, originally studied by <a href="#14" class="mim-tip-reference" title="Humphries, M. M., Sheils, D., Lawler, M., Farrar, G. J., McWilliam, P., Kenna, P., Bradley, D. G., Sharp, E. M., Gaffney, E. F., Young, M., Uitto, J., Humphries, P. <strong>Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.</strong> Genomics 7: 377-381, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365356</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90171-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365356">Humphries et al. (1990)</a> as family TCD-EBS2, <a href="#15" class="mim-tip-reference" title="Humphries, M. M., Sheils, D. M., Farrar, G. J., Kumar-Singh, R., Kenna, P. F., Mansergh, F. C., Jordan, S. A., Young, M., Humphries, P. <strong>A mutation (met-to-arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.</strong> Hum. Mutat. 2: 37-42, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7682883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7682883</a>] [<a href="https://doi.org/10.1002/humu.1380020107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7682883">Humphries et al. (1993)</a> identified a heterozygous mutation in the KRT14 gene (M272R; <a href="/entry/148066#0007">148066.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7682883+2365356" 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 5 affected members over 3 generations of a family (family 2) with the Koebner type of EBS, <a href="#4" class="mim-tip-reference" title="Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F. <strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong> J. Invest. Derm. 117: 1103-1107, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01508.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11710919">Cummins et al. (2001)</a> sequenced the KRT5 and KRT14 genes and identified heterozygosity for a missense mutation in the KRT14 gene (M119V; <a href="/entry/131760#0022">131760.0022</a>) that segregated with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" 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 31-year-old Japanese woman with the Koebner type of EBS, <a href="#11" class="mim-tip-reference" title="Gu, L.-H., Ichiki, Y., Sato, M., Kitajima, Y. <strong>A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.</strong> J. Derm. 29: 136-145, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11990248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11990248</a>] [<a href="https://doi.org/10.1111/j.1346-8138.2002.tb00236.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11990248">Gu et al. (2002)</a> sequenced the KRT5 and KRT14 genes, and identified heterozygosity for a nonsense mutation in the KRT14 gene (E411X; <a href="/entry/131760#0023">131760.0023</a>). DNA was unavailable from her affected sons for analysis, but the mutation was not found in 50 unrelated control DNA samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11990248" 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>Among 18 families with various forms of EBS, <a href="#19" class="mim-tip-reference" title="Pfendner, E. G., Sadowski, S. G., Uitto, J. <strong>Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.</strong> J. Invest. Derm. 125: 239-243, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098032</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23818.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098032">Pfendner et al. (2005)</a> identified KRT5 mutations in 7 probands and KRT14 mutations in 11 probands, indicating that mutations in either gene can result in EBS at approximately equal frequencies. A large number (15 of 18) were de novo mutations. The clinical spectrum was highly variable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098032" 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="#5" class="mim-tip-reference" title="Davison, B. C. C. <strong>Epidermolysis bullosa.</strong> J. Med. Genet. 2: 233-242, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5859028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5859028</a>] [<a href="https://doi.org/10.1136/jmg.2.4.233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5859028">Davison (1965)</a> referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (see <a href="/entry/131800">131800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5859028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of an extensive study in Norway and review of the literature, <a href="#9" class="mim-tip-reference" title="Gedde-Dahl, T., Jr. <strong>Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study.</strong> Baltimore: Johns Hopkins Press (pub.) 1971."None>Gedde-Dahl (1971)</a> arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. <a href="#10" class="mim-tip-reference" title="Gedde-Dahl, T., Jr. <strong>Sixteen types of epidermolysis bullosa: On the clinical discrimination, therapy and prenatal diagnosis.</strong> Acta Derm. Venereol. Suppl. (Stockh.) 95: 74-87, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6953718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6953718</a>]" pmid="6953718">Gedde-Dahl (1981)</a> recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (<a href="/entry/131950">131950</a>), and a form with mottled pigmentation (<a href="/entry/131960">131960</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6953718" 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 skin fibroblast cultures of 3 patients from 3 kindreds with generalized EBS, <a href="#22" class="mim-tip-reference" title="Sanchez, G., Seltzer, J. L., Eisen, A. Z., Stapler, P., Bauer, E. A. <strong>Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker.</strong> J. Invest. Derm. 81: 576-579, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6315831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6315831</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12523269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6315831">Sanchez et al. (1983)</a> found a 7-fold decrease in gelatin-specific neutral metalloprotease. Cultures from several other forms of epidermolysis bullosa showed no deficiency of this enzyme. Study of gelatinase activity from 13 cases of localized EBS found that 6 had low levels of the enzyme and 7 had normal levels. However, <a href="#23" class="mim-tip-reference" title="Winberg, J.-O., Gedde-Dahl, T. <strong>Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts.</strong> J. Invest. Derm. 87: 326-329, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3016106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3016106</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12524396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3016106">Winberg and Gedde-Dahl (1986)</a> found that reduced production of gelatinase from dermal fibroblasts was not a uniform finding in the Koebner form of EBS. None of 6 patients tested showed this trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6315831+3016106" 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="Mulley, J. C., Nicholls, C. M., Propert, D. N., Turner, T., Sutherland, G. R. <strong>Genetic linkage analysis of epidermolysis bullosa simplex, Koebner type.</strong> Am. J. Med. Genet. 19: 573-577, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6507503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6507503</a>] [<a href="https://doi.org/10.1002/ajmg.1320190320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6507503">Mulley et al. (1984)</a> found that both the Koebner and the Weber-Cockayne types of EBS had suggestive linkage to Duffy blood group (Fy) on chromosome 1 (maximum lod score 1.5 at theta = 0.2). In 3 generations of an Irish kindred with the Koebner variety of epidermolysis bullosa, <a href="#16" class="mim-tip-reference" title="Humphries, M., Nagayoshi, T., Sheils, D., Humphries, P., Uitto, J. <strong>Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1.</strong> J. Invest. Derm. 95: 568-570, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977802</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12505546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1977802">Humphries et al. (1990)</a> and <a href="#20" class="mim-tip-reference" title="Ryynanen, M., Humphries, M., Sheils, D., Knowlton, R., Humphries, P., Uitto, J. <strong>Epidermolysis bullosa: evidence for possible linkage to genetic markers on chromosome 1 in two families with the autosomal dominant simplex form. (Abstract)</strong> Advances in Gene Technology: The Molecular Biology of Human Genetic Disease. Proceedings of the 1991 Miami Bio/Technology Winter Symposium, January 1991. P. 37."None>Ryynanen et al. (1991)</a> found positive lod scores for 5 markers on 1q. In multilocus analysis, a lod score of 3 was obtained, with a maximum in the region of AT3 (<a href="/entry/107300">107300</a>) on 1q23. In 3 generations of a Finnish family with EBS, <a href="#20" class="mim-tip-reference" title="Ryynanen, M., Humphries, M., Sheils, D., Knowlton, R., Humphries, P., Uitto, J. <strong>Epidermolysis bullosa: evidence for possible linkage to genetic markers on chromosome 1 in two families with the autosomal dominant simplex form. (Abstract)</strong> Advances in Gene Technology: The Molecular Biology of Human Genetic Disease. Proceedings of the 1991 Miami Bio/Technology Winter Symposium, January 1991. P. 37."None>Ryynanen et al. (1991)</a> found only low positive lod scores for 1q markers. EBS2 was the designation for the putative locus on chromosome 1 (<a href="#21" class="mim-tip-reference" title="Ryynanen, M., Knowlton, R. G., Uitto, J. <strong>An epidermolysis bullosa simplex mutation maps to chromosome 12. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): 358 only, 1991."None>Ryynanen et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6507503+1977802" 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="#13" class="mim-tip-reference" title="Hoyheim, B., Gedde-Dahl, T., Olaisen, B. <strong>An exclusion map of EBS2 (epidermolysis bullosa simplex), including exclusion from chromosome 1. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1854 only, 1991."None>Hoyheim et al. (1991)</a> excluded EBS from chromosome 1 by demonstration of negative scores in a region up to 0.10 on each side of F13B (<a href="/entry/134580">134580</a>), which is located at 1q31-q32.1. <a href="#16" class="mim-tip-reference" title="Humphries, M., Nagayoshi, T., Sheils, D., Humphries, P., Uitto, J. <strong>Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1.</strong> J. Invest. Derm. 95: 568-570, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977802</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12505546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1977802">Humphries et al. (1990)</a> excluded EBS from a region of more than 10 cM on each side of the nidogen gene (NID; <a href="/entry/131390">131390</a>), located at 1q43. <a href="#6" class="mim-tip-reference" title="Epstein, E. H., Jr. <strong>Personal Communication.</strong> San Francisco, Calif. 5/5/1991."None>Epstein (1991)</a> suggested that the linkage to chromosome 1 markers may have been in error. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1977802" 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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Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr.
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<strong>Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.</strong>
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Science 254: 1202-1205, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1720261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1720261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1720261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr.
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<strong>Identification of a keratin 14 mutation in a family with epidermolysis bullosa simplex. (Abstract)</strong>
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Am. J. Hum. Genet. 49 (suppl.): 399 only, 1991.
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Bonifas, J. M., Rothman, A. L., Epstein, E., Jr.
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<strong>Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. (Abstract)</strong>
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Clin. Res. 39: 503A only, 1991.
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<strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong>
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J. Invest. Derm. 117: 1103-1107, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11710919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11710919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11710919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2.4.233" 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/10.1111/j.1346-8138.2002.tb00236.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/bjd.18921" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90171-p" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380020107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12505546" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12523269" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12524396" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 11/11/2021
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Cassandra L. Kniffin - updated : 11/3/2009<br>Cassandra L. Kniffin - reorganized : 9/14/2009<br>Cassandra L. Kniffin - updated : 8/25/2009
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Victor A. McKusick : 6/4/1986
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carol : 01/03/2025
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carol : 10/02/2023<br>carol : 09/25/2023<br>alopez : 09/22/2023<br>alopez : 03/18/2022<br>carol : 01/21/2022<br>alopez : 11/11/2021<br>alopez : 11/01/2021<br>alopez : 10/28/2021<br>alopez : 10/26/2021<br>alopez : 10/25/2021<br>alopez : 10/25/2021<br>carol : 11/01/2016<br>ckniffin : 11/19/2010<br>wwang : 11/19/2009<br>ckniffin : 11/3/2009<br>carol : 9/14/2009<br>carol : 9/14/2009<br>ckniffin : 8/25/2009<br>mimadm : 9/24/1994<br>davew : 8/17/1994<br>warfield : 4/8/1994<br>pfoster : 3/31/1994<br>carol : 12/10/1993<br>carol : 10/26/1993
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<strong>#</strong> 131900
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EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
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EPIDERMOLYSIS BULLOSA SIMPLEX 1B, KOEBNER TYPE
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<strong>ORPHA:</strong> 79399;
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<strong>DO:</strong> 0080511;
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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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17q21.2
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Epidermolysis bullosa simplex 1B, generalized intermediate
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131900
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Autosomal dominant
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3
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KRT14
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148066
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<p>A number sign (#) is used with this entry because of evidence that generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is caused by heterozygous mutation in the KRT14 gene (148066) on chromosome 17q21.</p><p>Another form of generalized intermediate EBS, EBS2B (619588), is caused by mutation in the KRT5 gene (148040).</p>
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<strong>Description</strong>
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<p>Generalized intermediate epidermolysis bullosa simplex-1B (EBS1B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by Has et al., 2020). </p><p>For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).</p><p><strong><em>Reviews</em></strong></p><p>
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Fine et al. (1991) provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria. </p><p>Fine et al. (2008) reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system. </p><p>Has et al. (2020) reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility. </p>
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<strong>Clinical Features</strong>
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<p>Passarge (1965) observed 21 affected persons in 4 generations of a family with generalized epidermolysis bullosa simplex. The inheritance pattern was autosomal dominant. </p><p>Humphries et al. (1990) studied a 3-generation Irish family in which 14 members had EBS of the Koebner type. All affected members had generalized blistering that healed without scarring. Onset on blistering was between 1 day and 8 months of age. Recurring blisters, particularly in the summer, were noted on soles and palms. Friction-induced blisters were also noted on the front of the knees, ankles, thighs, neck, arms, and waist. Some affected infants developed oral and labial blisters during feeding, and blisters induced by thumb-sucking were also observed. There was no dental or ungual involvement. Humphries et al. (1993) detected mutation in the KRT14 gene in this family (see MOLECULAR GENETICS). </p><p>Cummins et al. (2001) reported a 3-generation family (family 2) with intermediate EBS and mutation in the KRT14 gene. The proband was a 13-year-old girl who presented in infancy with primarily acral blistering, with intermittent involvement of the arms, thighs, and neck. She had no scarring, milia, intraoral blisters, or nail dystrophy. Her father developed occasional blisters on his hands and feet after minor trauma, and also had hyperkeratosis of his soles. A first cousin had blisters on her hands, arms, legs, and face, and a paternal aunt and grandmother developed blisters after minor trauma to the hands and feet. Electron microscopy from representative family members revealed suprabasal clefting consistent with EBS, and the authors designated the overall familial phenotype to be that of the Koebner type of EBS. </p><p>Gu et al. (2002) studied a Japanese mother and 2 sons with the Koebner type of EBS and mutation in the KRT14 gene. The 31-year-old proband developed blisters on her feet and knees at age 1 month. Generalized blistering continued to occur after minor mechanical trauma, mainly on the hands, feet, and limbs, but occasionally on the trunk. Healing resulted in postinflammatory hyperpigmentation but no scarring. Eyes, nails, and mucous membranes were normal, and she did not exhibit palmar or plantar hyperkeratosis. Both her sons, age 6 years and 2 years, were similarly affected. Histology of patient skin showed clefting through the basal layer; ultrastructural analysis revealed reduced and disorganized tonofilaments, characteristic of the Koebner type of EBS. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EBS1B in the family reported by Bonifas et al. (1991) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a family with generalized epidermolysis bullosa simplex of the Koebner type, Bonifas et al. (1991) found linkage to markers on chromosome 17 and identified a heterozygous point mutation in the KRT14 gene (L384P; 148066.0001).</p><p>In affected members of a large Irish family (TCDG) with Koebner type generalized EBS, originally studied by Humphries et al. (1990) as family TCD-EBS2, Humphries et al. (1993) identified a heterozygous mutation in the KRT14 gene (M272R; 148066.0007). </p><p>In 5 affected members over 3 generations of a family (family 2) with the Koebner type of EBS, Cummins et al. (2001) sequenced the KRT5 and KRT14 genes and identified heterozygosity for a missense mutation in the KRT14 gene (M119V; 131760.0022) that segregated with disease. </p><p>In a 31-year-old Japanese woman with the Koebner type of EBS, Gu et al. (2002) sequenced the KRT5 and KRT14 genes, and identified heterozygosity for a nonsense mutation in the KRT14 gene (E411X; 131760.0023). DNA was unavailable from her affected sons for analysis, but the mutation was not found in 50 unrelated control DNA samples. </p><p>Among 18 families with various forms of EBS, Pfendner et al. (2005) identified KRT5 mutations in 7 probands and KRT14 mutations in 11 probands, indicating that mutations in either gene can result in EBS at approximately equal frequencies. A large number (15 of 18) were de novo mutations. The clinical spectrum was highly variable. </p>
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<strong>History</strong>
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<p>Davison (1965) referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (see 131800). </p><p>On the basis of an extensive study in Norway and review of the literature, Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (131950), and a form with mottled pigmentation (131960). </p><p>In skin fibroblast cultures of 3 patients from 3 kindreds with generalized EBS, Sanchez et al. (1983) found a 7-fold decrease in gelatin-specific neutral metalloprotease. Cultures from several other forms of epidermolysis bullosa showed no deficiency of this enzyme. Study of gelatinase activity from 13 cases of localized EBS found that 6 had low levels of the enzyme and 7 had normal levels. However, Winberg and Gedde-Dahl (1986) found that reduced production of gelatinase from dermal fibroblasts was not a uniform finding in the Koebner form of EBS. None of 6 patients tested showed this trait. </p><p>Mulley et al. (1984) found that both the Koebner and the Weber-Cockayne types of EBS had suggestive linkage to Duffy blood group (Fy) on chromosome 1 (maximum lod score 1.5 at theta = 0.2). In 3 generations of an Irish kindred with the Koebner variety of epidermolysis bullosa, Humphries et al. (1990) and Ryynanen et al. (1991) found positive lod scores for 5 markers on 1q. In multilocus analysis, a lod score of 3 was obtained, with a maximum in the region of AT3 (107300) on 1q23. In 3 generations of a Finnish family with EBS, Ryynanen et al. (1991) found only low positive lod scores for 1q markers. EBS2 was the designation for the putative locus on chromosome 1 (Ryynanen et al., 1991). </p><p>Hoyheim et al. (1991) excluded EBS from chromosome 1 by demonstration of negative scores in a region up to 0.10 on each side of F13B (134580), which is located at 1q31-q32.1. Humphries et al. (1990) excluded EBS from a region of more than 10 cM on each side of the nidogen gene (NID; 131390), located at 1q43. Epstein (1991) suggested that the linkage to chromosome 1 markers may have been in error. </p>
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<strong>See Also:</strong>
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</span>
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<span class="mim-text-font">
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Bonifas et al. (1991)
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr.
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<strong>Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.</strong>
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Science 254: 1202-1205, 1991.
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[PubMed: 1720261]
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[Full Text: https://doi.org/10.1126/science.1720261]
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Bonifas, J. M., Rothman, A. L., Epstein, E. H., Jr.
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<strong>Identification of a keratin 14 mutation in a family with epidermolysis bullosa simplex. (Abstract)</strong>
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Am. J. Hum. Genet. 49 (suppl.): 399 only, 1991.
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<p class="mim-text-font">
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Bonifas, J. M., Rothman, A. L., Epstein, E., Jr.
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<strong>Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. (Abstract)</strong>
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Clin. Res. 39: 503A only, 1991.
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Cummins, R. E., Klingberg, S., Wesley, J., Rogers, M., Zhao, Y., Murrell, D. F.
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<strong>Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.</strong>
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J. Invest. Derm. 117: 1103-1107, 2001.
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[PubMed: 11710919]
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[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01508.x]
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<p class="mim-text-font">
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Davison, B. C. C.
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<strong>Epidermolysis bullosa.</strong>
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J. Med. Genet. 2: 233-242, 1965.
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[PubMed: 5859028]
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[Full Text: https://doi.org/10.1136/jmg.2.4.233]
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Epstein, E. H., Jr.
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<strong>Personal Communication.</strong>
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