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<title>
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Entry
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- #609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA
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- OMIM
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<span class="h4">#609638</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/609638"><strong>Clinical Synopsis</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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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC) OR (DSP)" class="mim-tip-hint" title="Clinical Trials" 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=17237&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.diseaseinfosearch.org/x/2591" 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=609638[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=158687" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/07c64bb7-211e-406a-bc49-8b69fc1a3444/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1230026002<br />
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<strong>ORPHA:</strong> 158687<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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609638
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA
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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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LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; LAEB
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/6/42?start=-3&limit=10&highlight=42">
|
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6p24.3
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Epidermolysis bullosa, lethal acantholytic
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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/609638"> 609638 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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DSP
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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/125647"> 125647 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/609638" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
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/609638" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/609638" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent antihelices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845272</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000395</a>]</span><br /> -
|
|
Squared-off superior helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013289</a>]</span><br /> -
|
|
Unravelling of superior helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013290</a>]</span><br /> -
|
|
Retroverted ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013291&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013291</a>]</span><br />
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</span>
|
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</div>
|
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</div>
|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neonatal teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58748004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58748004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162501001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162501001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21995002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21995002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000695</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enlarged heart (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
|
|
Poor myocardial contractility (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013303</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Airways </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Obstruction of airways due to sloughed mucosa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013301</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Phimosis, secondary to epidermolysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969235&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969235</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pseudosyndactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004057</a>]</span><br /> -
|
|
Tapered distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969237</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009884" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009884</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009884" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009884</a>]</span><br /> -
|
|
Syndactyly of 2-3, 3-4, and 4-5 fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013292</a>]</span><br /> -
|
|
Fifth-finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sandal gap <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001852</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001852</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7f0c5161d509ee1536459956355a9d8e" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/UErwXUH6SSCZ8tgyQ9KrnRRV4mFGXNRh-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7f0c5161d509ee1536459956355a9d8e" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Globular distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013293</a>]</span><br /> -
|
|
Widely spaced toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969238</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008094</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=896a1bc100d00d2be39d970d55432b61" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/z2Wx_f73znnW9sG8V4grsxkBs_Xn5RST-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=896a1bc100d00d2be39d970d55432b61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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</div>
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Progressive generalized skin erosions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969239</a>]</span><br /> -
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Cutis aplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254237003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254237003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q84.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q84.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0282160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0282160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001057</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001057</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin Histology </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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- Suprabasal clefting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969240</a>]</span><br /> -
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Acantholysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43327007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43327007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000887&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000887</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100792</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Electron Microscopy </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Disconnection of keratin intermediate filaments from desmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969241</a>]</span><br /> -
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Acantholysis throughout epidermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013294</a>]</span><br /> -
|
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Swollen mitochondria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013295</a>]</span><br /> -
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Reduced numbers of desmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013296</a>]</span><br /> -
|
|
Hypoplastic desmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013297</a>]</span><br /> -
|
|
Half-desmosomes present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013298</a>]</span><br /> -
|
|
Absence of inner dense plaque <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013299</a>]</span><br /> -
|
|
Midcytoplasmic retraction of tonofilament skeleton <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013300</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Nails </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Nail loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22743000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22743000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263540</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025088</a>]</span><br /> -
|
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Absent nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23610003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23610003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298140008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298140008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q84.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q84.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265998</a>, <a href="https://bioportal.bioontology.org/search?q=C0600021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001798" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001798</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001798" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001798</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Hair </em>
|
|
</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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|
- Universal alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86166000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86166000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L63.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L63.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002289" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002289</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002289" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002289</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Neonatal death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276506001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276506001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410916</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003811</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003811</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> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the desmoplakin gene (DSP, <a href="/entry/125647#0008">125647.0008</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that lethal acantholytic epidermolysis bullosa (EBLA) is caused by homozygous or compound heterozygous mutation in the desmoplakin gene (DSP; <a href="/entry/125647">125647</a>) on chromosome 6p24.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by <a href="#2" class="mim-tip-reference" title="Hobbs, R. P., Han, S. Y., van der Zwaag, P. A., Bolling, M. C., Jongbloed, I. D. H., Jonkman, M. F., Getsios, S., Paller, A. S., Green, K. J. <strong>Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. (Letter)</strong> J. Invest. Derm. 130: 2680-2683, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20613772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20613772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20613772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jid.2010.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20613772">Hobbs et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20613772" 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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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#3" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H. <strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong> Am. J. Hum. Genet. 77: 653-660, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175511[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/496901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16175511">Jonkman et al. (2005)</a> described a male infant with severe fragility of skin and mucous membranes in whom rapidly progressive generalized epidermolysis had begun during delivery. The area of epidermolysis progressed from 30% to 70% within the first day and to 90% by the fifth day. Large sheets of skin were detached, leaving superficial, not bleeding, dull, intense red wound surfaces. The child lost profuse amounts of fluid from the extensive skin erosions. The skin fragility was accompanied by universal alopecia. Three triangular neonatal teeth were present in the mandible, and the oral cavity and conjunctivae were erosive. All 20 nails had recently shed; the impressions of the nail plates in the nail beds were still visible. Death occurred at 10 days of age due to immense transcutaneous fluid loss. Histopathology of the skin showed suprabasal clefting, leaving basal cells attached to the blister floor like a row of tombstones. The spinous layer showed spongiosis (widening of the intercellular space) and acantholysis, looking like a 'dilapidated brick wall,' which extended into hair follicles and eccrine ducts. The histopathology mimicked that of pemphigus vulgaris (<a href="/entry/169610">169610</a>). Electron microscopic examination of the skin revealed that the level of cleavage was intracellular, between the inner dense plaque of the desmosome and the cytoskeleton. Immunofluorescence staining of desmosomal proteins showed a distinct punctate intercellular pattern in the patient's skin. <a href="#3" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H. <strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong> Am. J. Hum. Genet. 77: 653-660, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175511[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/496901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16175511">Jonkman et al. (2005)</a> designated the phenotype lethal acantholytic epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16175511" 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="#1" class="mim-tip-reference" title="Bolling, M. C., Veenstra, M. J., Jonkman, M. F., Diercks, G. F. H., Curry, C. J., Fisher, J., Pas, H. H., Bruckner, A. L. <strong>Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.</strong> Brit. J. Derm. 162: 1388-1394, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20302578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20302578</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09668.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20302578">Bolling et al. (2010)</a> reported a consanguineous Yemeni family in which the first child, a boy, died at 3 days of age from an erosive skin condition consistent with a lethal form of epidermolysis bullosa. Electron microscopy showed acantholysis in the entire epidermis. Keratinocytes were incompletely separated and showed swollen mitochondria, indicating cell distress. Desmosomes were reduced in number, and very hypoplastic; most were torn out of the cell membrane as a whole, with the outer dense plaques still glued together. Hemidesmosomes were also present. The inner dense plaque was completely absent, as was intermediate-filament insertion in all desmosomes. The tonofilament skeleton showed midcytoplasmic retraction. Basal keratinocytes were well connected to the basement membrane, although the hemidesmosomes appeared slightly smaller and had reduced tonofilament insertions as well. A second child was normal, but the third child, another boy, was also born with extensive cutaneous erosions. Examination revealed a scalded appearance with epithelial shedding over at least 50% of the body. Islands of pale necrotic epidermis were floating on the erosions, similar to observations in the original EBLA case described by <a href="#3" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H. <strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong> Am. J. Hum. Genet. 77: 653-660, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175511[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/496901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16175511">Jonkman et al. (2005)</a>. In addition, the infant had universal alopecia, nail beds without nails, and mild 2-3, 3-4, and 4-5 syndactyly of the fingers with fifth-finger clinodactyly. He had extensive milia over the nose and lacked natal teeth, and the external ears showed mild unraveling of the superior helices and retroversion; <a href="#1" class="mim-tip-reference" title="Bolling, M. C., Veenstra, M. J., Jonkman, M. F., Diercks, G. F. H., Curry, C. J., Fisher, J., Pas, H. H., Bruckner, A. L. <strong>Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.</strong> Brit. J. Derm. 162: 1388-1394, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20302578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20302578</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09668.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20302578">Bolling et al. (2010)</a> noted that the original EBLA patient exhibited dysmorphic ears as well, with prominent antihelices and squaring-off of the superior helices. The second affected brother died at 1 day of age from respiratory failure. Prenatal ultrasound had shown mild cardiac ventricular hypertrophy with reduced contractility; the family declined autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16175511+20302578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Hobbs, R. P., Han, S. Y., van der Zwaag, P. A., Bolling, M. C., Jongbloed, I. D. H., Jonkman, M. F., Getsios, S., Paller, A. S., Green, K. J. <strong>Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. (Letter)</strong> J. Invest. Derm. 130: 2680-2683, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20613772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20613772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20613772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jid.2010.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20613772">Hobbs et al. (2010)</a> described an infant girl, born to consanguineous parents, who had almost complete denudement of skin and mucosae, absent fingernails and toenails, and total alopecia. Denuded sites reepithelialized within days without residual scarring, but blistering recurred rapidly and the airway filled with extensive sloughed mucosa. Chest x-rays and echocardiograms were normal. Histologic analysis showed suprabasal acantholysis or cell clusters in a single acantholytic basal cell layer. Immunofluorescence microscopy showed staining for all basement membrane zone markers, with plectin (<a href="/entry/601282">601282</a>) and cytokeratin (see <a href="/entry/139350">139350</a>) staining a discontinuous single row of basal keratinocytes adherent to the basement membrane. The infant died at 26 days of age due to airway obstruction; the parents declined autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20613772" 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 EBLA in the family reported by <a href="#3" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H. <strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong> Am. J. Hum. Genet. 77: 653-660, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175511[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/496901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16175511">Jonkman et al. (2005)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16175511" 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 observation in their patient that the keratin intermediate filaments were disconnected from the inner dense plaque, similar to desmoplakin knockout mice and patients with skin fragility-woolly hair syndrome (see <a href="/entry/605676">605676</a>), led <a href="#3" class="mim-tip-reference" title="Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H. <strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong> Am. J. Hum. Genet. 77: 653-660, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175511[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/496901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16175511">Jonkman et al. (2005)</a> to screen the DSP gene (<a href="/entry/125647">125647</a>) for mutations. Mutation screening of genomic DNA demonstrated compound heterozygosity for 2 mutations in exon 24 of the DSP gene. A premature termination mutation (R1934X; <a href="/entry/125647#0008">125647.0008</a>) was inherited from the father, and a 2-bp deletion (6370delTT; <a href="/entry/125647#0009">125647.0009</a>) was inherited from the mother. Aberrant mRNA transcripts that predicted premature termination of translation with loss of the 3 intermediate filament-binding subdomains in the desmoplakin tail were detected by RT-PCR. Protein analysis showed expression of truncated desmoplakin polypeptides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16175511" 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 2 brothers with lethal acantholytic epidermolysis bullosa (LAEB) from a consanguineous Yemeni family, <a href="#1" class="mim-tip-reference" title="Bolling, M. C., Veenstra, M. J., Jonkman, M. F., Diercks, G. F. H., Curry, C. J., Fisher, J., Pas, H. H., Bruckner, A. L. <strong>Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.</strong> Brit. J. Derm. 162: 1388-1394, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20302578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20302578</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09668.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20302578">Bolling et al. (2010)</a> identified homozygosity for a 5-bp deletion in the DSP gene (<a href="/entry/125647#0018">125647.0018</a>) that was not found in 100 control DNA samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20302578" 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 an infant girl with EBLA, <a href="#2" class="mim-tip-reference" title="Hobbs, R. P., Han, S. Y., van der Zwaag, P. A., Bolling, M. C., Jongbloed, I. D. H., Jonkman, M. F., Getsios, S., Paller, A. S., Green, K. J. <strong>Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. (Letter)</strong> J. Invest. Derm. 130: 2680-2683, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20613772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20613772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20613772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jid.2010.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20613772">Hobbs et al. (2010)</a> identified homozygosity for a 1-bp deletion in the DSP gene (<a href="/entry/125647#0019">125647.0019</a>) for which her consanguineous parents were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20613772" 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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Bolling, M. C., Veenstra, M. J., Jonkman, M. F., Diercks, G. F. H., Curry, C. J., Fisher, J., Pas, H. H., Bruckner, A. L.
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<strong>Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.</strong>
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Brit. J. Derm. 162: 1388-1394, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20302578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20302578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20302578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.2010.09668.x" target="_blank">Full Text</a>]
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Hobbs, R. P., Han, S. Y., van der Zwaag, P. A., Bolling, M. C., Jongbloed, I. D. H., Jonkman, M. F., Getsios, S., Paller, A. S., Green, K. J.
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<strong>Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. (Letter)</strong>
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J. Invest. Derm. 130: 2680-2683, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20613772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20613772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20613772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20613772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H.
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<strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong>
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Am. J. Hum. Genet. 77: 653-660, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16175511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16175511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16175511[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16175511" 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/10.1086/496901" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/30/2015
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Victor A. McKusick : 10/7/2005
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alopez : 11/08/2023
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alopez : 06/13/2023<br>alopez : 10/05/2016<br>carol : 06/06/2016<br>alopez : 1/30/2015<br>mcolton : 1/30/2015<br>joanna : 11/17/2014<br>alopez : 3/15/2006<br>alopez : 10/17/2005<br>alopez : 10/7/2005
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<strong>#</strong> 609638
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EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA
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LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; LAEB
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<strong>SNOMEDCT:</strong> 1230026002;
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<strong>ORPHA:</strong> 158687;
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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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6p24.3
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Epidermolysis bullosa, lethal acantholytic
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609638
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Autosomal recessive
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3
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DSP
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125647
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<p>A number sign (#) is used with this entry because of evidence that lethal acantholytic epidermolysis bullosa (EBLA) is caused by homozygous or compound heterozygous mutation in the desmoplakin gene (DSP; 125647) on chromosome 6p24.</p>
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<strong>Description</strong>
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<p>Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010). </p>
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<strong>Clinical Features</strong>
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<p>Jonkman et al. (2005) described a male infant with severe fragility of skin and mucous membranes in whom rapidly progressive generalized epidermolysis had begun during delivery. The area of epidermolysis progressed from 30% to 70% within the first day and to 90% by the fifth day. Large sheets of skin were detached, leaving superficial, not bleeding, dull, intense red wound surfaces. The child lost profuse amounts of fluid from the extensive skin erosions. The skin fragility was accompanied by universal alopecia. Three triangular neonatal teeth were present in the mandible, and the oral cavity and conjunctivae were erosive. All 20 nails had recently shed; the impressions of the nail plates in the nail beds were still visible. Death occurred at 10 days of age due to immense transcutaneous fluid loss. Histopathology of the skin showed suprabasal clefting, leaving basal cells attached to the blister floor like a row of tombstones. The spinous layer showed spongiosis (widening of the intercellular space) and acantholysis, looking like a 'dilapidated brick wall,' which extended into hair follicles and eccrine ducts. The histopathology mimicked that of pemphigus vulgaris (169610). Electron microscopic examination of the skin revealed that the level of cleavage was intracellular, between the inner dense plaque of the desmosome and the cytoskeleton. Immunofluorescence staining of desmosomal proteins showed a distinct punctate intercellular pattern in the patient's skin. Jonkman et al. (2005) designated the phenotype lethal acantholytic epidermolysis bullosa. </p><p>Bolling et al. (2010) reported a consanguineous Yemeni family in which the first child, a boy, died at 3 days of age from an erosive skin condition consistent with a lethal form of epidermolysis bullosa. Electron microscopy showed acantholysis in the entire epidermis. Keratinocytes were incompletely separated and showed swollen mitochondria, indicating cell distress. Desmosomes were reduced in number, and very hypoplastic; most were torn out of the cell membrane as a whole, with the outer dense plaques still glued together. Hemidesmosomes were also present. The inner dense plaque was completely absent, as was intermediate-filament insertion in all desmosomes. The tonofilament skeleton showed midcytoplasmic retraction. Basal keratinocytes were well connected to the basement membrane, although the hemidesmosomes appeared slightly smaller and had reduced tonofilament insertions as well. A second child was normal, but the third child, another boy, was also born with extensive cutaneous erosions. Examination revealed a scalded appearance with epithelial shedding over at least 50% of the body. Islands of pale necrotic epidermis were floating on the erosions, similar to observations in the original EBLA case described by Jonkman et al. (2005). In addition, the infant had universal alopecia, nail beds without nails, and mild 2-3, 3-4, and 4-5 syndactyly of the fingers with fifth-finger clinodactyly. He had extensive milia over the nose and lacked natal teeth, and the external ears showed mild unraveling of the superior helices and retroversion; Bolling et al. (2010) noted that the original EBLA patient exhibited dysmorphic ears as well, with prominent antihelices and squaring-off of the superior helices. The second affected brother died at 1 day of age from respiratory failure. Prenatal ultrasound had shown mild cardiac ventricular hypertrophy with reduced contractility; the family declined autopsy. </p><p>Hobbs et al. (2010) described an infant girl, born to consanguineous parents, who had almost complete denudement of skin and mucosae, absent fingernails and toenails, and total alopecia. Denuded sites reepithelialized within days without residual scarring, but blistering recurred rapidly and the airway filled with extensive sloughed mucosa. Chest x-rays and echocardiograms were normal. Histologic analysis showed suprabasal acantholysis or cell clusters in a single acantholytic basal cell layer. Immunofluorescence microscopy showed staining for all basement membrane zone markers, with plectin (601282) and cytokeratin (see 139350) staining a discontinuous single row of basal keratinocytes adherent to the basement membrane. The infant died at 26 days of age due to airway obstruction; the parents declined autopsy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EBLA in the family reported by Jonkman et al. (2005) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>The observation in their patient that the keratin intermediate filaments were disconnected from the inner dense plaque, similar to desmoplakin knockout mice and patients with skin fragility-woolly hair syndrome (see 605676), led Jonkman et al. (2005) to screen the DSP gene (125647) for mutations. Mutation screening of genomic DNA demonstrated compound heterozygosity for 2 mutations in exon 24 of the DSP gene. A premature termination mutation (R1934X; 125647.0008) was inherited from the father, and a 2-bp deletion (6370delTT; 125647.0009) was inherited from the mother. Aberrant mRNA transcripts that predicted premature termination of translation with loss of the 3 intermediate filament-binding subdomains in the desmoplakin tail were detected by RT-PCR. Protein analysis showed expression of truncated desmoplakin polypeptides. </p><p>In 2 brothers with lethal acantholytic epidermolysis bullosa (LAEB) from a consanguineous Yemeni family, Bolling et al. (2010) identified homozygosity for a 5-bp deletion in the DSP gene (125647.0018) that was not found in 100 control DNA samples. </p><p>In an infant girl with EBLA, Hobbs et al. (2010) identified homozygosity for a 1-bp deletion in the DSP gene (125647.0019) for which her consanguineous parents were heterozygous. </p>
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<strong>REFERENCES</strong>
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Bolling, M. C., Veenstra, M. J., Jonkman, M. F., Diercks, G. F. H., Curry, C. J., Fisher, J., Pas, H. H., Bruckner, A. L.
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<strong>Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.</strong>
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Brit. J. Derm. 162: 1388-1394, 2010.
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[PubMed: 20302578]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2010.09668.x]
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Hobbs, R. P., Han, S. Y., van der Zwaag, P. A., Bolling, M. C., Jongbloed, I. D. H., Jonkman, M. F., Getsios, S., Paller, A. S., Green, K. J.
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<strong>Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. (Letter)</strong>
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J. Invest. Derm. 130: 2680-2683, 2010.
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[PubMed: 20613772]
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[Full Text: https://doi.org/10.1038/jid.2010.189]
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Jonkman, M. F., Pasmooij, A. M. G., Pasmans, S. G. M. A., van den Berg, M. P., ter Horst, H. J., Timmer, A., Pas, H. H.
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<strong>Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.</strong>
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Am. J. Hum. Genet. 77: 653-660, 2005.
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[PubMed: 16175511]
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[Full Text: https://doi.org/10.1086/496901]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/30/2015
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Victor A. McKusick : 10/7/2005
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 11/08/2023<br>alopez : 06/13/2023<br>alopez : 10/05/2016<br>carol : 06/06/2016<br>alopez : 1/30/2015<br>mcolton : 1/30/2015<br>joanna : 11/17/2014<br>alopez : 3/15/2006<br>alopez : 10/17/2005<br>alopez : 10/7/2005
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