2379 lines
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Entry
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- #604129 - EPIDERMOLYSIS BULLOSA PRURIGINOSA
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- OMIM
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<p>
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<span class="h4">#604129</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/604129"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=EPIDERMOLYSIS BULLOSA PRURIGINOSA" 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=11908&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1304/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8317" 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=604129[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=89843" 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>
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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>
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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> 403810008<br />
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<strong>ORPHA:</strong> 89843<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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604129
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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 PRURIGINOSA
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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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DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA<br />
|
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DEB, PRURIGINOSA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/285?start=-3&limit=10&highlight=285">
|
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3p21.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Epidermolysis bullosa pruriginosa
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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/604129"> 604129 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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COL7A1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/120120"> 120120 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/604129" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/604129" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604129" 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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<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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
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Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Epidermolysis bullosa, dystrophic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254185007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254185007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079294</a>]</span><br /> -
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Blistering, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676803</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/339008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">339008</a>]</span><br /> -
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Skin fragility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br /> -
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Erosions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15498001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15498001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1959609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1959609</a>, <a href="https://bioportal.bioontology.org/search?q=C0333307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333307</a>]</span><br /> -
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Pruritis, intense <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676804&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676804</a>]</span><br /> -
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Prurigo <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64144002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64144002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L28.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L28.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/698.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">698.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033771</a>]</span><br /> -
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Nodular lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1518345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1518345</a>]</span><br /> -
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Lichenified lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676805&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676805</a>]</span><br /> -
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|
Hypertrophic scarring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19843006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19843006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L91.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L91.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162810</a>]</span><br /> -
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Milia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37719003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37719003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254679001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254679001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span><br /> -
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|
Albopapuloid lesions may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676806</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">
|
|
<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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|
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- Sublamina densa level of tissue separation beneath basal membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676807</a>]</span><br /> -
|
|
Decreased number of anchoring fibrils at dermal-epidermal junction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676808</a>]</span><br /> -
|
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Hypotrophic anchoring fibrils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676809</a>]</span><br /> -
|
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Decreased staining for collagen VII <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676810</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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- Dystrophic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
|
|
Nail atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276458009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276458009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0455950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0455950</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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|
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- Variable age at onset from childhood to adulthood<br /> -
|
|
Blisters are precipitated by minor skin trauma<br /> -
|
|
Blistering and erosions tend to occur on extensor surfaces or over bony prominences<br /> -
|
|
Blistering frequency may decrease with age<br /> -
|
|
Intrafamilial variability<br /> -
|
|
See also dominant DEB (<a href="/entry/131750">131750</a>), an allelic disorder with a similar phenotype<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, <a href="/entry/120120#0009">120120.0009</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 dystrophic epidermolysis bullosa (DEB) pruriginosa is caused by heterozygous or compound heterozygous mutation in the COL7A1 gene (<a href="/entry/120120">120120</a>).</p><p>See also autosomal dominant DEB (<a href="/entry/131750">131750</a>) and autosomal recessive DEB (<a href="/entry/226600">226600</a>), allelic disorders with overlapping phenotypes.</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>Dystrophic epidermolysis bullosa is an inherited skin fragility disorder associated with anchoring fibril abnormalities and sublamina densa blistering.</p><p>EB pruriginosa is a rare distinct clinical subtype of dystrophic EB in which skin fragility, blistering, and scar formation are associated with intense pruritus, nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions (<a href="#5" class="mim-tip-reference" title="McGrath, J. A., Schofield, O. M. V., Eady, R. A. J. <strong>Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.</strong> Brit. J. Derm. 130: 617-625, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8204470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8204470</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1994.tb13109.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8204470">McGrath et al., 1994</a>; <a href="#1" class="mim-tip-reference" title="Cambiaghi, S., Brusasco, A., Restano, L., Cavalli, R., Tadini, G. <strong>Epidermolysis bullosa pruriginosa.</strong> Dermatology 195: 65-68, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9267744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9267744</a>] [<a href="https://doi.org/10.1159/000245691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9267744">Cambiaghi et al., 1997</a>). The onset of these clinical features may be evident in early childhood, but in some cases is delayed until the second or third decade of life. Autosomal dominant, autosomal recessive, and sporadic inheritance patterns have all been described in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8204470+9267744" 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="#2" class="mim-tip-reference" title="Drera, B., Castiglia, D., Zoppi, N., Gardella, R., Tadini, G., Floriddia, G., De Luca, N., Pedicelli, C., Barlati, S., Zambruno, G., Colombi, M. <strong>Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.</strong> Clin. Genet. 70: 339-347, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965329</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00679.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16965329">Drera et al. (2006)</a> reported 7 unrelated Italian patients with EB pruriginosa. Three patients had a family history of the disorder consistent with autosomal dominant inheritance. Six patients reported onset of symptoms at birth or early childhood. Most had relatively mild skin involvement with blistering lesions located primarily at trauma sites. Four patients reported gradual amelioration during childhood or adolescence. Other disease features included nail dystrophy, skin atrophy and milia formation, and a single patient had albopapuloid lesions. All patients reported worsening of the skin phenotype after the onset of itching. Physical exam showed excoriated and lichenified papules, nodules, and plaques associated with scarring on the shins, foot dorsum, elbows, wrists, and back. Pruritus occurred at puberty in 4 patients and in adulthood in 3. Pruritus was severe, generalized, and unresponsive to conventional therapies. Two patients had increased serum IgE. Skin biopsies showed deposition of variable amounts of collagen VII at the dermal-epidermal junction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16965329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ee, H. L., Liu, L., Goh, C. L., McGrath, J. A. <strong>Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.</strong> J. Am. Acad. Derm. 56: S77-S81, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17434045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17434045</a>] [<a href="https://doi.org/10.1016/j.jaad.2006.10.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17434045">Ee et al. (2007)</a> reported a Chinese-Singaporean family with autosomal dominant EB pruriginosa. The proband was a 53-year-old woman with a blistering skin eruption over the back, nape of the neck, both shins, and elbows. She had a history of intermittent blistering since age 25 years. The blisters were provoked by scratching and were pruritic; mucous membranes were not affected. Physical examination showed linear erosions and hypertrophic scars on the affected areas with some milia formation. Skin biopsy showed blister formation below the lamina densa and decreased numbers of anchoring fibrils in nonblistered skin. At least 5 of her sibs were similarly affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17434045" 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 epidermolysis bullosa pruriginosa in patients 1, 4, and 6 reported by <a href="#6" class="mim-tip-reference" title="Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A. <strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong> J. Invest. Derm. 112: 984-987, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383749</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383749">Mellerio et al. (1999)</a> was consistent with autosomal dominant inheritance. The transmission pattern in patient 5 of <a href="#6" class="mim-tip-reference" title="Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A. <strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong> J. Invest. Derm. 112: 984-987, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383749</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383749">Mellerio et al. (1999)</a> was consistent with autosomal recessive inheritance. The heterozygous mutation in the COL7A1 gene in 1 patient with epidermolysis bullosa pruriginosa reported by <a href="#2" class="mim-tip-reference" title="Drera, B., Castiglia, D., Zoppi, N., Gardella, R., Tadini, G., Floriddia, G., De Luca, N., Pedicelli, C., Barlati, S., Zambruno, G., Colombi, M. <strong>Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.</strong> Clin. Genet. 70: 339-347, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965329</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00679.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16965329">Drera et al. (2006)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16965329+10383749" 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 possibility of additional immune-mediated factors in the pathogenesis of this characteristic form of epidermolysis bullosa has been suggested and was supported by the report of <a href="#7" class="mim-tip-reference" title="Yamasaki, H., Tada, J., Yoshioka, T., Arata, J. <strong>Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. (Letter)</strong> Brit. J. Derm. 137: 308-310, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292092</a>]" pmid="9292092">Yamasaki et al. (1997)</a> describing clinical improvement with cyclosporin A. In the patients studied by <a href="#6" class="mim-tip-reference" title="Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A. <strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong> J. Invest. Derm. 112: 984-987, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383749</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383749">Mellerio et al. (1999)</a>, there was no evidence for other causes of itching, such as thyroid dysfunction or low ferritin levels. They pointed out, however, that because the pathophysiology of itch is poorly understood, other potential modifying factors may be elucidated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9292092+10383749" 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 Taiwanese pedigree with autosomal dominant EB pruriginosa, <a href="#4" class="mim-tip-reference" title="Lee, J. Y., Pulkkinen, L., Liu, H.-S., Chen, Y.-F., Uitto, J. <strong>A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.</strong> J. Invest. Derm. 108: 947-949, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182828</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12296242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9182828">Lee et al. (1997)</a> identified a heterozygous mutation in the COL7A1 gene (<a href="/entry/120120#0017">120120.0017</a>). <a href="#6" class="mim-tip-reference" title="Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A. <strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong> J. Invest. Derm. 112: 984-987, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383749</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383749">Mellerio et al. (1999)</a> identified the same mutation in a British family with dominant epidermolysis bullosa pruriginosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9182828+10383749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A. <strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong> J. Invest. Derm. 112: 984-987, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383749</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10383749">Mellerio et al. (1999)</a> identified mutations in the COL7A1 gene (see, e.g., <a href="/entry/120120#0020">120120.0020</a>) in 5 unrelated patients with EB pruriginosa. One patient was compound heterozygous for 2 mutations (<a href="/entry/120120#0018">120120.0018</a>; <a href="/entry/120120#0019">120120.0019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10383749" 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="Drera, B., Castiglia, D., Zoppi, N., Gardella, R., Tadini, G., Floriddia, G., De Luca, N., Pedicelli, C., Barlati, S., Zambruno, G., Colombi, M. <strong>Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.</strong> Clin. Genet. 70: 339-347, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965329</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00679.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16965329">Drera et al. (2006)</a> identified 9 mutations in the COL7A1 gene among 7 unrelated Italian patients with EB pruriginosa (see, e.g., <a href="/entry/120120#0032">120120.0032</a>; <a href="/entry/120120#0033">120120.0033</a>). Six of the mutations had previously been reported in EB patients without pruriginosa (see, e.g., <a href="/entry/120120#0009">120120.0009</a>; <a href="/entry/120120#0010">120120.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16965329" 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="Drera, B., Castiglia, D., Zoppi, N., Gardella, R., Tadini, G., Floriddia, G., De Luca, N., Pedicelli, C., Barlati, S., Zambruno, G., Colombi, M. <strong>Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.</strong> Clin. Genet. 70: 339-347, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965329</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00679.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16965329">Drera et al. (2006)</a> stated that 16 distinct mutations in the COL7A1 gene had been reported in patients with EB pruriginosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16965329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ee, H. L., Liu, L., Goh, C. L., McGrath, J. A. <strong>Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.</strong> J. Am. Acad. Derm. 56: S77-S81, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17434045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17434045</a>] [<a href="https://doi.org/10.1016/j.jaad.2006.10.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17434045">Ee et al. (2007)</a> identified a heterozygous mutation in the COL7A1 gene (G2251E; <a href="/entry/120120#0014">120120.0014</a>) in affected members of a Chinese-Singaporean family with dominant inheritance of EB pruriginosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17434045" 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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Cambiaghi, S., Brusasco, A., Restano, L., Cavalli, R., Tadini, G.
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Dermatology 195: 65-68, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9267744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9267744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9267744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000245691" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Drera2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Drera, B., Castiglia, D., Zoppi, N., Gardella, R., Tadini, G., Floriddia, G., De Luca, N., Pedicelli, C., Barlati, S., Zambruno, G., Colombi, M.
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<strong>Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.</strong>
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Clin. Genet. 70: 339-347, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16965329" 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.1399-0004.2006.00679.x" target="_blank">Full Text</a>]
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<a id="Ee2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ee, H. L., Liu, L., Goh, C. L., McGrath, J. A.
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<strong>Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.</strong>
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J. Am. Acad. Derm. 56: S77-S81, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17434045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17434045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17434045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jaad.2006.10.017" target="_blank">Full Text</a>]
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<a id="Lee1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, J. Y., Pulkkinen, L., Liu, H.-S., Chen, Y.-F., Uitto, J.
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<strong>A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.</strong>
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J. Invest. Derm. 108: 947-949, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12296242" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="McGrath1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGrath, J. A., Schofield, O. M. V., Eady, R. A. J.
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<strong>Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.</strong>
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Brit. J. Derm. 130: 617-625, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8204470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8204470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8204470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1994.tb13109.x" target="_blank">Full Text</a>]
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<a id="Mellerio1999" class="mim-anchor"></a>
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Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A.
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<strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong>
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J. Invest. Derm. 112: 984-987, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10383749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10383749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10383749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.1999.00614.x" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Yamasaki1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Yamasaki, H., Tada, J., Yoshioka, T., Arata, J.
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<strong>Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. (Letter)</strong>
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Brit. J. Derm. 137: 308-310, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9292092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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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Cassandra L. Kniffin - updated : 5/16/2008
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/1/2006
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/16/1999
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alopez : 08/07/2023
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carol : 10/28/2010<br>carol : 12/2/2008<br>carol : 5/19/2008<br>ckniffin : 5/16/2008<br>carol : 11/3/2006<br>ckniffin : 11/1/2006<br>mcapotos : 7/25/2000<br>carol : 8/17/1999<br>jlewis : 8/16/1999
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<span class="mim-font">
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<strong>#</strong> 604129
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EPIDERMOLYSIS BULLOSA PRURIGINOSA
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<em>Alternative titles; symbols</em>
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DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA<br />
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DEB, PRURIGINOSA
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<strong>SNOMEDCT:</strong> 403810008;
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<strong>ORPHA:</strong> 89843;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3p21.31
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<span class="mim-font">
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Epidermolysis bullosa pruriginosa
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604129
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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<span class="mim-font">
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3
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COL7A1
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120120
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that dystrophic epidermolysis bullosa (DEB) pruriginosa is caused by heterozygous or compound heterozygous mutation in the COL7A1 gene (120120).</p><p>See also autosomal dominant DEB (131750) and autosomal recessive DEB (226600), allelic disorders with overlapping phenotypes.</p>
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<strong>Description</strong>
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<p>Dystrophic epidermolysis bullosa is an inherited skin fragility disorder associated with anchoring fibril abnormalities and sublamina densa blistering.</p><p>EB pruriginosa is a rare distinct clinical subtype of dystrophic EB in which skin fragility, blistering, and scar formation are associated with intense pruritus, nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions (McGrath et al., 1994; Cambiaghi et al., 1997). The onset of these clinical features may be evident in early childhood, but in some cases is delayed until the second or third decade of life. Autosomal dominant, autosomal recessive, and sporadic inheritance patterns have all been described in this disorder. </p>
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<strong>Clinical Features</strong>
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<p>Drera et al. (2006) reported 7 unrelated Italian patients with EB pruriginosa. Three patients had a family history of the disorder consistent with autosomal dominant inheritance. Six patients reported onset of symptoms at birth or early childhood. Most had relatively mild skin involvement with blistering lesions located primarily at trauma sites. Four patients reported gradual amelioration during childhood or adolescence. Other disease features included nail dystrophy, skin atrophy and milia formation, and a single patient had albopapuloid lesions. All patients reported worsening of the skin phenotype after the onset of itching. Physical exam showed excoriated and lichenified papules, nodules, and plaques associated with scarring on the shins, foot dorsum, elbows, wrists, and back. Pruritus occurred at puberty in 4 patients and in adulthood in 3. Pruritus was severe, generalized, and unresponsive to conventional therapies. Two patients had increased serum IgE. Skin biopsies showed deposition of variable amounts of collagen VII at the dermal-epidermal junction. </p><p>Ee et al. (2007) reported a Chinese-Singaporean family with autosomal dominant EB pruriginosa. The proband was a 53-year-old woman with a blistering skin eruption over the back, nape of the neck, both shins, and elbows. She had a history of intermittent blistering since age 25 years. The blisters were provoked by scratching and were pruritic; mucous membranes were not affected. Physical examination showed linear erosions and hypertrophic scars on the affected areas with some milia formation. Skin biopsy showed blister formation below the lamina densa and decreased numbers of anchoring fibrils in nonblistered skin. At least 5 of her sibs were similarly affected. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of epidermolysis bullosa pruriginosa in patients 1, 4, and 6 reported by Mellerio et al. (1999) was consistent with autosomal dominant inheritance. The transmission pattern in patient 5 of Mellerio et al. (1999) was consistent with autosomal recessive inheritance. The heterozygous mutation in the COL7A1 gene in 1 patient with epidermolysis bullosa pruriginosa reported by Drera et al. (2006) occurred de novo. </p>
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<strong>Pathogenesis</strong>
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<p>The possibility of additional immune-mediated factors in the pathogenesis of this characteristic form of epidermolysis bullosa has been suggested and was supported by the report of Yamasaki et al. (1997) describing clinical improvement with cyclosporin A. In the patients studied by Mellerio et al. (1999), there was no evidence for other causes of itching, such as thyroid dysfunction or low ferritin levels. They pointed out, however, that because the pathophysiology of itch is poorly understood, other potential modifying factors may be elucidated. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a Taiwanese pedigree with autosomal dominant EB pruriginosa, Lee et al. (1997) identified a heterozygous mutation in the COL7A1 gene (120120.0017). Mellerio et al. (1999) identified the same mutation in a British family with dominant epidermolysis bullosa pruriginosa. </p><p>Mellerio et al. (1999) identified mutations in the COL7A1 gene (see, e.g., 120120.0020) in 5 unrelated patients with EB pruriginosa. One patient was compound heterozygous for 2 mutations (120120.0018; 120120.0019). </p><p>Drera et al. (2006) identified 9 mutations in the COL7A1 gene among 7 unrelated Italian patients with EB pruriginosa (see, e.g., 120120.0032; 120120.0033). Six of the mutations had previously been reported in EB patients without pruriginosa (see, e.g., 120120.0009; 120120.0010). </p><p>Drera et al. (2006) stated that 16 distinct mutations in the COL7A1 gene had been reported in patients with EB pruriginosa. </p><p>Ee et al. (2007) identified a heterozygous mutation in the COL7A1 gene (G2251E; 120120.0014) in affected members of a Chinese-Singaporean family with dominant inheritance of EB pruriginosa. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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Cambiaghi, S., Brusasco, A., Restano, L., Cavalli, R., Tadini, G.
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<strong>Epidermolysis bullosa pruriginosa.</strong>
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Dermatology 195: 65-68, 1997.
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[PubMed: 9267744]
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[Full Text: https://doi.org/10.1159/000245691]
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</li>
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<li>
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<p class="mim-text-font">
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Drera, B., Castiglia, D., Zoppi, N., Gardella, R., Tadini, G., Floriddia, G., De Luca, N., Pedicelli, C., Barlati, S., Zambruno, G., Colombi, M.
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<strong>Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.</strong>
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Clin. Genet. 70: 339-347, 2006.
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[PubMed: 16965329]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00679.x]
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</li>
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<li>
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<p class="mim-text-font">
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Ee, H. L., Liu, L., Goh, C. L., McGrath, J. A.
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<strong>Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.</strong>
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J. Am. Acad. Derm. 56: S77-S81, 2007.
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[PubMed: 17434045]
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[Full Text: https://doi.org/10.1016/j.jaad.2006.10.017]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, J. Y., Pulkkinen, L., Liu, H.-S., Chen, Y.-F., Uitto, J.
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<strong>A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.</strong>
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J. Invest. Derm. 108: 947-949, 1997.
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[PubMed: 9182828]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12296242]
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<li>
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<p class="mim-text-font">
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McGrath, J. A., Schofield, O. M. V., Eady, R. A. J.
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<strong>Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.</strong>
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Brit. J. Derm. 130: 617-625, 1994.
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[PubMed: 8204470]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1994.tb13109.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., McGrath, J. A.
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<strong>Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.</strong>
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J. Invest. Derm. 112: 984-987, 1999.
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[PubMed: 10383749]
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[Full Text: https://doi.org/10.1046/j.1523-1747.1999.00614.x]
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<p class="mim-text-font">
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Yamasaki, H., Tada, J., Yoshioka, T., Arata, J.
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<strong>Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. (Letter)</strong>
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Brit. J. Derm. 137: 308-310, 1997.
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[PubMed: 9292092]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/16/2008<br>Cassandra L. Kniffin - updated : 11/1/2006
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Victor A. McKusick : 8/16/1999
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alopez : 08/07/2023<br>carol : 10/28/2010<br>carol : 12/2/2008<br>carol : 5/19/2008<br>ckniffin : 5/16/2008<br>carol : 11/3/2006<br>ckniffin : 11/1/2006<br>mcapotos : 7/25/2000<br>carol : 8/17/1999<br>jlewis : 8/16/1999
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