2827 lines
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Entry
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- #162900 - NEVUS, EPIDERMAL
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- OMIM
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<p>
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<span class="h4">#162900</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/162900"><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="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=NEVUS, EPIDERMAL" 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=11440&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/NBK153722/" 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/8316" 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://medlineplus.gov/genetics/condition/epidermal-nevus" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=162900[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=79414" 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 style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111162" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/162900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111162" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<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> 239107007, 25201003<br />
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<strong>ORPHA:</strong> 79414<br />
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<strong>DO:</strong> 0111162<br />
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">ICD+</a>
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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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162900
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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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NEVUS, EPIDERMAL
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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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NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
|
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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NEVUS SEBACEOUS, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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NEVUS, WOOLLY HAIR, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<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/1/943?start=-3&limit=10&highlight=943">
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1p13.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Epidermal nevus, somatic
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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/162900"> 162900 </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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</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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NRAS
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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/164790"> 164790 </a>
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</span>
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</td>
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</tr>
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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/3/876?start=-3&limit=10&highlight=876">
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3q26.32
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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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Nevus, epidermal, somatic
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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/162900"> 162900 </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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</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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<span class="mim-font">
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PIK3CA
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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/171834"> 171834 </a>
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</span>
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</td>
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<tr>
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<span class="mim-font">
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<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
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4p16.3
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</a>
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<td>
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<span class="mim-font">
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Nevus, epidermal, somatic
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/162900"> 162900 </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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</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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FGFR3
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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/134934"> 134934 </a>
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</span>
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</td>
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</tr>
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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/11/29?start=-3&limit=10&highlight=29">
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11p15.5
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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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Nevus sebaceous or woolly hair nevus, somatic
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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/162900"> 162900 </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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</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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HRAS
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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/190020"> 190020 </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 class="btn-group ">
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<a href="/clinicalSynopsis/162900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/162900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/162900" 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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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</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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- Multiple nevi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700199&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700199</a>]</span><br /> -
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Pigmented moles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400096001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400096001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10291008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10291008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400010006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400010006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1260467009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1260467009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D22.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D22.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027962</a>, <a href="https://bioportal.bioontology.org/search?q=C1842036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842036</a>, <a href="https://bioportal.bioontology.org/search?q=C3665593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005600</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000995</a>]</span><br /> -
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|
Woolly hair nevus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239124001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239124001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343114</a>]</span><br /> -
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Hyperpigmented patches of skin (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842774</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001034</a>]</span><br /> -
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Raised, scaly, and/or hyperkeratotic areas of skin (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231409</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>
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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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- Patches of tightly curled scalp hair adjacent to straight hair (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231408</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> 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 somatic mutation in the NRAS proto-oncogene, GTPase gene (NRAS, <a href="/entry/164790#0002">164790.0002</a>)<br /> -
|
|
Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, <a href="/entry/171834#0004">171834.0004</a>)<br /> -
|
|
Caused by somatic mutation in the fibroblast growth factor receptor-3 gene (FGFR3, <a href="/entry/134934#0001">134934.0001</a>)<br /> -
|
|
Caused by somatic mutation in the HRas proto-oncogene, GTPase gene (HRAS, <a href="/entry/190020#0001">190020.0001</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 epidermal nevus can result from somatic mosaicism for mutations in the FGFR3 gene (<a href="/entry/134934">134934</a>), the PIK3CA gene (<a href="/entry/171834">171834</a>), and the RAS genes, including KRAS (<a href="/entry/190070">190070</a>), HRAS (<a href="/entry/190020">190020</a>), and NRAS (<a href="/entry/164790">164790</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="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>Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (<a href="#10" class="mim-tip-reference" title="Paller, A. S., Syder, A. J., Chan, Y.-M., Yu, Q.-C., Hutton, E., Tadini, G., Fuchs, E. <strong>Genetic and clinical mosaicism in a type of epidermal nevus.</strong> New Eng. J. Med. 331: 1408-1415, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7526210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7526210</a>] [<a href="https://doi.org/10.1056/NEJM199411243312103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7526210">Paller et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7526210" 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 rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, <a href="/entry/113800">113800</a>), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (<a href="#10" class="mim-tip-reference" title="Paller, A. S., Syder, A. J., Chan, Y.-M., Yu, Q.-C., Hutton, E., Tadini, G., Fuchs, E. <strong>Genetic and clinical mosaicism in a type of epidermal nevus.</strong> New Eng. J. Med. 331: 1408-1415, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7526210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7526210</a>] [<a href="https://doi.org/10.1056/NEJM199411243312103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7526210">Paller et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7526210" 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>Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by <a href="#11" class="mim-tip-reference" title="Ramot, Y., Zlotogorski, A. <strong>The twisting tale of woolly hair: a trait with many causes.</strong> J. Med. Genet. 52: 217-223, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25561463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25561463</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25561463">Ramot and Zlotogorski, 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25561463" 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>Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by <a href="#2" class="mim-tip-reference" title="Groesser, L., Herschberger, E., Ruetten, A., Ruivenkamp, C., Lopriore, E., Zutt, M., Langmann, T., Singer, S., Klingseisen, L., Schneider-Brachert, W., Toll, A., Real, F. X., Landthaler, M., Hafner, C. <strong>Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.</strong> Nature Genet. 44: 783-787, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22683711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22683711</a>] [<a href="https://doi.org/10.1038/ng.2316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22683711">Groesser et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683711" 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>Also see giant pigmented hairy nevus (<a href="/entry/137550">137550</a>) and malignant melanoma (<a href="/entry/155600">155600</a>).</p>
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<p><a href="#7" class="mim-tip-reference" title="Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A. <strong>Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. (Letter)</strong> J. Invest. Derm. 134: 1149-1152, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24129065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24129065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24129065[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.2013.430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24129065">Levinsohn et al. (2014)</a> studied 2 unrelated girls with woolly hair nevus. The first patient was a 10-year-old girl who from infancy had regions of slightly curly hair lying alongside areas of straight hair. She exhibited hyperpigmented patches on her neck, trunk, and arms, with more keratotic lesions on her distal extremities and acanthosis nigricans in both axillae. She also had linear palmoplantar keratoderma (PPK) and hyperkeratosis over most metacarpophalangeal and some proximal interphalangeal joints. The second patient was a 6-year-old girl in whom the hair anomaly, which consisted of a mixture of poker-straight and thin curly hair, had developed at 1 year of age. In infancy, she developed linear dyspigmentation on her right arm and trunk, which gradually became more raised and scaly on the distal extremities. Neither girl had developmental delay or cardiac abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24129065" 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><strong><em>Mutations in the FGFR3 Gene</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Hafner, C., van Oers, J. M. M., Vogt, T., Landthaler, M., Stoehr, R., Blaszyk, H., Hofstaedter, F., Zwarthoff, E. C., Hartmann, A. <strong>Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.</strong> J. Clin. Invest. 116: 2201-2207, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16841094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16841094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16841094[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/10.1172/JCI28163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16841094">Hafner et al. (2006)</a> analyzed 39 common epidermal nevi from 33 patients using a multiplex PCR assay covering 11 FGFR3 (<a href="/entry/134934">134934</a>) point mutations and by direct sequencing of exon 19 of the FGFR3 gene. Somatic mutations were identified in 11 patients: 10 of them, including 8 with systematized epidermal nevus, had the R248C mutation (<a href="/entry/134934#0005">134934.0005</a>); 1 patient had a double mutation in exon 10 of the FGFR3 gene (<a href="/entry/134934#0001">134934.0001</a> and <a href="/entry/134934#0033">134934.0033</a>). In 4 patients tested, FGFR3 mutations were not found in adjacent, histologically normal skin. <a href="#6" class="mim-tip-reference" title="Hafner, C., van Oers, J. M. M., Vogt, T., Landthaler, M., Stoehr, R., Blaszyk, H., Hofstaedter, F., Zwarthoff, E. C., Hartmann, A. <strong>Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.</strong> J. Clin. Invest. 116: 2201-2207, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16841094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16841094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16841094[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/10.1172/JCI28163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16841094">Hafner et al. (2006)</a> concluded that a large proportion of epidermal nevi are caused by mosaicism of activating FGFR3 mutations in the human epidermis secondary to a postzygotic mutation in early embryonic development, and that the R248C mutation appears to be a hotspot for FGFR3 mutations in epidermal nevi. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16841094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hafner, C., Toll, A., Gantner, S., Mauerer, A., Lurkin, I., Acquadro, F., Fernandez-Casado, A., Zwarthoff, E. C., Dietmaier, W., Baselga, E., Parera, E., Vicente, A., Casanova, A., Cigudosa, J., Mentzel, T., Pujol, R. M., Landthaler, M., Real, F. X. <strong>Keratinocytic epidermal nevi are associated with mosaic RAS mutations.</strong> J. Med. Genet. 49: 249-253, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499344</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499344">Hafner et al. (2012)</a> identified activating somatic mutations in the FGFR3 gene in 16 (22%) of 72 keratinocytic epidermal nevi. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Mutations in the PIK3CA Gene</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Hafner, C., Lopez-Knowles, E., Luis, N. M., Toll, A., Baselga, E., Fernandez-Casado, A., Hernandez, S., Ribe, A., Mentzel, T., Stoehr, R., Hofstaedter, F., Landthaler, M., Vogt, T., Pujol, R. M., Hartmann, A., Real, F. X. <strong>Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.</strong> Proc. Nat. Acad. Sci. 104: 13450-13454, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17673550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17673550</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17673550[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/10.1073/pnas.0705218104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17673550">Hafner et al. (2007)</a> identified a heterozygous somatic mutation in the PIK3CA gene (E545G; <a href="/entry/171834#0004">171834.0004</a>) in 9 (27%) of 33 epidermal nevi. Two of these tumors had a concomitant R248C mutation in the FGFR3 gene. The authors emphasized that these are benign lesions and noted that the same PIK3CA mutation had been observed in colorectal cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17673550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hafner, C., Toll, A., Gantner, S., Mauerer, A., Lurkin, I., Acquadro, F., Fernandez-Casado, A., Zwarthoff, E. C., Dietmaier, W., Baselga, E., Parera, E., Vicente, A., Casanova, A., Cigudosa, J., Mentzel, T., Pujol, R. M., Landthaler, M., Real, F. X. <strong>Keratinocytic epidermal nevi are associated with mosaic RAS mutations.</strong> J. Med. Genet. 49: 249-253, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499344</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499344">Hafner et al. (2012)</a> identified activating somatic mutations in the PIK3CA gene in 6 (8%) of 72 keratinocytic epidermal nevi. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Mutations in RAS Genes</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Bourdeaut, F., Herault, A., Gentien, D., Pierron, G., Ballet, S., Reynaud, S., Paris, R., Schleiermacher, G., Baumann, C., Philippe-Chomette, P., Gauthier-Villars, M., Peuchmaur, M., Radvanyi, F., Delattre, O. <strong>Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.</strong> J. Med. Genet. 47: 859-862, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805368</a>] [<a href="https://doi.org/10.1136/jmg.2009.075374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20805368">Bourdeaut et al. (2010)</a> found somatic mosaicism for a mutation in the KRAS gene (G12D; <a href="/entry/190070#0005">190070.0005</a>) in a female infant with an epidermal nevus who also developed a uterovaginal rhabdomyosarcoma (<a href="/entry/268210">268210</a>) at age 6 months. Both the epidermal nevus and the rhabdomyosarcoma carried the G12D mutation, which was not found in normal dermal tissue, bone, cheek swap, or lymphocytes. The phenotype was consistent with broad activation of the KRAS pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805368" 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="#5" class="mim-tip-reference" title="Hafner, C., Toll, A., Real, F. X. <strong>HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. (Letter)</strong> New Eng. J. Med. 365: 1940-1942, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22087699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22087699</a>] [<a href="https://doi.org/10.1056/NEJMc1109381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22087699">Hafner et al. (2011)</a> reported a 49-year-old man with widespread congenital epidermal nevus and recurrent urothelial cancer who was mosaic for an HRAS G12S mutation (<a href="/entry/190020#0003">190020.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22087699" 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="Groesser, L., Herschberger, E., Ruetten, A., Ruivenkamp, C., Lopriore, E., Zutt, M., Langmann, T., Singer, S., Klingseisen, L., Schneider-Brachert, W., Toll, A., Real, F. X., Landthaler, M., Hafner, C. <strong>Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.</strong> Nature Genet. 44: 783-787, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22683711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22683711</a>] [<a href="https://doi.org/10.1038/ng.2316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22683711">Groesser et al. (2012)</a> analyzed tumor tissue from 65 individuals with nevus sebaceous for the presence of RAS hotspot mutations. Somatic KRAS mutations (<a href="/entry/190070#0005">190070.0005</a>, <a href="/entry/190070#0006">190070.0006</a>) were present in 3 lesions (5%). Two of these tumors also carried somatic HRAS mutations. Isolated somatic HRAS mutations were present in 62 lesions (95%), with a G13R substitution (<a href="/entry/190020#0017">190020.0017</a>) accounting for 91%. Five sebaceous nevi carried 2 RAS mutations. Nonlesional tissue from 18 patients showed a wildtype HRAS sequence. Eight individuals developed secondary tumors within the nevus sebaceous, including 2 syringocystadenoma papilliferum, 3 trichoblastomas, and 3 trichilemmomas, and all secondary tumors carried the same mutation as the nevi. Functional analysis of mutant cells carrying the G13R mutation showed constitutive activation of the MAPK (see <a href="/entry/176948">176948</a>) and PI3K (see <a href="/entry/171834">171834</a>)/AKT (<a href="/entry/164730">164730</a>) signaling pathways. No mutations were found in the FGFR3 or PIK3CA genes in any of the nevus sebaceous lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hafner, C., Toll, A., Gantner, S., Mauerer, A., Lurkin, I., Acquadro, F., Fernandez-Casado, A., Zwarthoff, E. C., Dietmaier, W., Baselga, E., Parera, E., Vicente, A., Casanova, A., Cigudosa, J., Mentzel, T., Pujol, R. M., Landthaler, M., Real, F. X. <strong>Keratinocytic epidermal nevi are associated with mosaic RAS mutations.</strong> J. Med. Genet. 49: 249-253, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499344</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499344">Hafner et al. (2012)</a> found somatic activating RAS mutations in 28 (39%) of 72 keratinocytic epidermal nevi, all from unrelated patients. HRAS was the most commonly affected oncogene, with the HRAS G13R substitution (<a href="/entry/190020#0017">190020.0017</a>) occurring in 21 lesions. One nevus had a somatic mutation in the KRAS gene (G12D; <a href="/entry/190070#0005">190070.0005</a>), and 3 had somatic mutations in the NRAS gene (Q61R, <a href="/entry/164790#0002">164790.0002</a>; P34L, <a href="/entry/164790#0006">164790.0006</a>; and G12D, <a href="/entry/164790#0007">164790.0007</a>). These findings identified keratinocytic epidermal nevi as a mosaic RASopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499344" 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>By paired whole-exome sequencing of DNA from affected tissue and blood from 2 unrelated girls with woolly hair nevus, <a href="#7" class="mim-tip-reference" title="Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A. <strong>Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. (Letter)</strong> J. Invest. Derm. 134: 1149-1152, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24129065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24129065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24129065[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.2013.430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24129065">Levinsohn et al. (2014)</a> identified heterozygosity for a somatic mutation in the HRAS gene (G12S; <a href="/entry/190020#0003">190020.0003</a>) in both individuals. Analysis of hair bulbs from straight and curly patient hair confirmed that the G12S mutation was present in curly hair only. There was no evidence for loss of heterozygosity or a secondary somatic mutation, suggesting that HRAS mutation alone is sufficient to cause woolly hair nevus. <a href="#7" class="mim-tip-reference" title="Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A. <strong>Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. (Letter)</strong> J. Invest. Derm. 134: 1149-1152, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24129065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24129065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24129065[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.2013.430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24129065">Levinsohn et al. (2014)</a> also screened 116 archival scalp nevus sebaceous lesions for mutations in the HRAS and KRAS genes and detected 88 HRAS and 9 KRAS mutations. Consistent with previous reports (<a href="#8" class="mim-tip-reference" title="Levinsohn, J. L., Tian, L. C., Boyden, L. M., McNiff, J. M., Narayan, D., Loring, E. S., Yun, D., Sugarman, J. L., Overton, J. D., Mane, S. M., Lifton, R. P., Paller, A. S., Wagner, A. M., Antaya, R. J., Choate, K. A. <strong>Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. (Letter)</strong> J. Invest. Derm. 133: 827-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23096712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23096712</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23096712[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.2012.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23096712">Levinsohn et al., 2013</a>; <a href="#12" class="mim-tip-reference" title="Sun, B. K., Saggini, A., Sarin, K. Y., Kim, J., Benjamin, L., LeBoit, P. E., Khavari, P. A. <strong>Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome. (Letter)</strong> J. Invest. Derm. 133: 824-827, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23096709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23096709</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23096709[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.2012.377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23096709">Sun et al., 2013</a>), the HRAS G13R mutation was present in 85 specimens, but the G12S mutation was not found. <a href="#7" class="mim-tip-reference" title="Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A. <strong>Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. (Letter)</strong> J. Invest. Derm. 134: 1149-1152, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24129065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24129065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24129065[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.2013.430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24129065">Levinsohn et al. (2014)</a> suggested that more strongly activating RAS mutations cause the alopecia and sebaceous hyperplasia of nevus sebaceous, whereas the more mildly activating G12S mutation causes the woolly hair nevus phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23096712+24129065+23096709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Meirowski1942" class="mim-tip-reference" title="Meirowski, E. <strong>Moles and malformations of the skin and their relationship to inheritance and phylogenesis (new and old investigations).</strong> Brit. J. Derm. 54: 99-121, 1942.">Meirowski (1942)</a>
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[<a href="https://doi.org/10.1136/jmg.2009.075374" target="_blank">Full Text</a>]
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Groesser, L., Herschberger, E., Ruetten, A., Ruivenkamp, C., Lopriore, E., Zutt, M., Langmann, T., Singer, S., Klingseisen, L., Schneider-Brachert, W., Toll, A., Real, F. X., Landthaler, M., Hafner, C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22683711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22683711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2316" target="_blank">Full Text</a>]
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Hafner, C., Lopez-Knowles, E., Luis, N. M., Toll, A., Baselga, E., Fernandez-Casado, A., Hernandez, S., Ribe, A., Mentzel, T., Stoehr, R., Hofstaedter, F., Landthaler, M., Vogt, T., Pujol, R. M., Hartmann, A., Real, F. X.
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[<a href="https://doi.org/10.1073/pnas.0705218104" target="_blank">Full Text</a>]
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Hafner, C., Toll, A., Gantner, S., Mauerer, A., Lurkin, I., Acquadro, F., Fernandez-Casado, A., Zwarthoff, E. C., Dietmaier, W., Baselga, E., Parera, E., Vicente, A., Casanova, A., Cigudosa, J., Mentzel, T., Pujol, R. M., Landthaler, M., Real, F. X.
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<strong>Keratinocytic epidermal nevi are associated with mosaic RAS mutations.</strong>
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J. Med. Genet. 49: 249-253, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2011-100637" target="_blank">Full Text</a>]
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Hafner, C., Toll, A., Real, F. X.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22087699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22087699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22087699" 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/10.1056/NEJMc1109381" target="_blank">Full Text</a>]
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Hafner, C., van Oers, J. M. M., Vogt, T., Landthaler, M., Stoehr, R., Blaszyk, H., Hofstaedter, F., Zwarthoff, E. C., Hartmann, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16841094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16841094</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16841094[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=16841094" 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/10.1172/JCI28163" target="_blank">Full Text</a>]
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Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A.
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<strong>Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. (Letter)</strong>
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J. Invest. Derm. 134: 1149-1152, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24129065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24129065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24129065[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=24129065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2013.430" target="_blank">Full Text</a>]
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Levinsohn, J. L., Tian, L. C., Boyden, L. M., McNiff, J. M., Narayan, D., Loring, E. S., Yun, D., Sugarman, J. L., Overton, J. D., Mane, S. M., Lifton, R. P., Paller, A. S., Wagner, A. M., Antaya, R. J., Choate, K. A.
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<strong>Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. (Letter)</strong>
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J. Invest. Derm. 133: 827-830, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23096712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23096712</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23096712[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=23096712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2012.379" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Meirowski1942" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Meirowski, E.
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<strong>Moles and malformations of the skin and their relationship to inheritance and phylogenesis (new and old investigations).</strong>
|
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Brit. J. Derm. 54: 99-121, 1942.
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Paller1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paller, A. S., Syder, A. J., Chan, Y.-M., Yu, Q.-C., Hutton, E., Tadini, G., Fuchs, E.
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<strong>Genetic and clinical mosaicism in a type of epidermal nevus.</strong>
|
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New Eng. J. Med. 331: 1408-1415, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7526210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7526210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7526210" 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/10.1056/NEJM199411243312103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Ramot2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramot, Y., Zlotogorski, A.
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<strong>The twisting tale of woolly hair: a trait with many causes.</strong>
|
|
J. Med. Genet. 52: 217-223, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25561463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25561463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25561463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2014-102630" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Sun2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sun, B. K., Saggini, A., Sarin, K. Y., Kim, J., Benjamin, L., LeBoit, P. E., Khavari, P. A.
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<strong>Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome. (Letter)</strong>
|
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J. Invest. Derm. 133: 824-827, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23096709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23096709</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23096709[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=23096709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2012.377" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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 : 6/16/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 1/30/2013<br>Cassandra L. Kniffin - updated : 7/25/2012<br>Ada Hamosh - updated : 11/29/2011<br>Cassandra L. Kniffin - updated : 2/21/2011<br>Ada Hamosh - updated : 10/20/2009<br>Marla J. F. O'Neill - updated : 8/5/2009<br>Cassandra L. Kniffin - updated : 10/13/2008<br>Marla J. F. O'Neill - updated : 3/8/2007
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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carol : 06/18/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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mcolton : 6/16/2015<br>alopez : 2/5/2013<br>ckniffin : 1/30/2013<br>carol : 7/25/2012<br>ckniffin : 7/25/2012<br>alopez : 12/2/2011<br>terry : 11/29/2011<br>wwang : 3/1/2011<br>ckniffin : 2/21/2011<br>alopez : 10/20/2009<br>carol : 8/5/2009<br>terry : 1/30/2009<br>wwang : 10/23/2008<br>ckniffin : 10/13/2008<br>wwang : 3/9/2007<br>terry : 3/8/2007<br>joanna : 3/18/2004<br>mimadm : 12/2/1994<br>carol : 4/15/1992<br>supermim : 3/16/1992<br>carol : 3/3/1992<br>carol : 6/13/1990<br>supermim : 3/20/1990
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>#</strong> 162900
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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NEVUS, EPIDERMAL
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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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<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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NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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NEVUS SEBACEOUS, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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NEVUS, WOOLLY HAIR, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 239107007, 25201003;
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<strong>ORPHA:</strong> 79414;
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<strong>DO:</strong> 0111162;
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</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">
|
|
1p13.2
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epidermal nevus, somatic
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
162900
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
NRAS
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
164790
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
3q26.32
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Nevus, epidermal, somatic
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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162900
|
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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|
3
|
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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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PIK3CA
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
171834
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
4p16.3
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Nevus, epidermal, somatic
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
162900
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
FGFR3
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
134934
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
11p15.5
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Nevus sebaceous or woolly hair nevus, somatic
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
162900
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
HRAS
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
190020
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</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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|
|
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|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that epidermal nevus can result from somatic mosaicism for mutations in the FGFR3 gene (134934), the PIK3CA gene (171834), and the RAS genes, including KRAS (190070), HRAS (190020), and NRAS (164790).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
|
<span class="mim-text-font">
|
|
<p>Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). </p><p>A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). </p><p>Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). </p><p>Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). </p><p>Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
<span class="mim-text-font">
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<p>Levinsohn et al. (2014) studied 2 unrelated girls with woolly hair nevus. The first patient was a 10-year-old girl who from infancy had regions of slightly curly hair lying alongside areas of straight hair. She exhibited hyperpigmented patches on her neck, trunk, and arms, with more keratotic lesions on her distal extremities and acanthosis nigricans in both axillae. She also had linear palmoplantar keratoderma (PPK) and hyperkeratosis over most metacarpophalangeal and some proximal interphalangeal joints. The second patient was a 6-year-old girl in whom the hair anomaly, which consisted of a mixture of poker-straight and thin curly hair, had developed at 1 year of age. In infancy, she developed linear dyspigmentation on her right arm and trunk, which gradually became more raised and scaly on the distal extremities. Neither girl had developmental delay or cardiac abnormalities. </p>
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<p><strong><em>Mutations in the FGFR3 Gene</em></strong></p><p>
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Hafner et al. (2006) analyzed 39 common epidermal nevi from 33 patients using a multiplex PCR assay covering 11 FGFR3 (134934) point mutations and by direct sequencing of exon 19 of the FGFR3 gene. Somatic mutations were identified in 11 patients: 10 of them, including 8 with systematized epidermal nevus, had the R248C mutation (134934.0005); 1 patient had a double mutation in exon 10 of the FGFR3 gene (134934.0001 and 134934.0033). In 4 patients tested, FGFR3 mutations were not found in adjacent, histologically normal skin. Hafner et al. (2006) concluded that a large proportion of epidermal nevi are caused by mosaicism of activating FGFR3 mutations in the human epidermis secondary to a postzygotic mutation in early embryonic development, and that the R248C mutation appears to be a hotspot for FGFR3 mutations in epidermal nevi. </p><p>Hafner et al. (2012) identified activating somatic mutations in the FGFR3 gene in 16 (22%) of 72 keratinocytic epidermal nevi. </p><p><strong><em>Mutations in the PIK3CA Gene</em></strong></p><p>
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Hafner et al. (2007) identified a heterozygous somatic mutation in the PIK3CA gene (E545G; 171834.0004) in 9 (27%) of 33 epidermal nevi. Two of these tumors had a concomitant R248C mutation in the FGFR3 gene. The authors emphasized that these are benign lesions and noted that the same PIK3CA mutation had been observed in colorectal cancer. </p><p>Hafner et al. (2012) identified activating somatic mutations in the PIK3CA gene in 6 (8%) of 72 keratinocytic epidermal nevi. </p><p><strong><em>Mutations in RAS Genes</em></strong></p><p>
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Bourdeaut et al. (2010) found somatic mosaicism for a mutation in the KRAS gene (G12D; 190070.0005) in a female infant with an epidermal nevus who also developed a uterovaginal rhabdomyosarcoma (268210) at age 6 months. Both the epidermal nevus and the rhabdomyosarcoma carried the G12D mutation, which was not found in normal dermal tissue, bone, cheek swap, or lymphocytes. The phenotype was consistent with broad activation of the KRAS pathway. </p><p>Hafner et al. (2011) reported a 49-year-old man with widespread congenital epidermal nevus and recurrent urothelial cancer who was mosaic for an HRAS G12S mutation (190020.0003). </p><p>Groesser et al. (2012) analyzed tumor tissue from 65 individuals with nevus sebaceous for the presence of RAS hotspot mutations. Somatic KRAS mutations (190070.0005, 190070.0006) were present in 3 lesions (5%). Two of these tumors also carried somatic HRAS mutations. Isolated somatic HRAS mutations were present in 62 lesions (95%), with a G13R substitution (190020.0017) accounting for 91%. Five sebaceous nevi carried 2 RAS mutations. Nonlesional tissue from 18 patients showed a wildtype HRAS sequence. Eight individuals developed secondary tumors within the nevus sebaceous, including 2 syringocystadenoma papilliferum, 3 trichoblastomas, and 3 trichilemmomas, and all secondary tumors carried the same mutation as the nevi. Functional analysis of mutant cells carrying the G13R mutation showed constitutive activation of the MAPK (see 176948) and PI3K (see 171834)/AKT (164730) signaling pathways. No mutations were found in the FGFR3 or PIK3CA genes in any of the nevus sebaceous lesions. </p><p>Hafner et al. (2012) found somatic activating RAS mutations in 28 (39%) of 72 keratinocytic epidermal nevi, all from unrelated patients. HRAS was the most commonly affected oncogene, with the HRAS G13R substitution (190020.0017) occurring in 21 lesions. One nevus had a somatic mutation in the KRAS gene (G12D; 190070.0005), and 3 had somatic mutations in the NRAS gene (Q61R, 164790.0002; P34L, 164790.0006; and G12D, 164790.0007). These findings identified keratinocytic epidermal nevi as a mosaic RASopathy. </p><p>By paired whole-exome sequencing of DNA from affected tissue and blood from 2 unrelated girls with woolly hair nevus, Levinsohn et al. (2014) identified heterozygosity for a somatic mutation in the HRAS gene (G12S; 190020.0003) in both individuals. Analysis of hair bulbs from straight and curly patient hair confirmed that the G12S mutation was present in curly hair only. There was no evidence for loss of heterozygosity or a secondary somatic mutation, suggesting that HRAS mutation alone is sufficient to cause woolly hair nevus. Levinsohn et al. (2014) also screened 116 archival scalp nevus sebaceous lesions for mutations in the HRAS and KRAS genes and detected 88 HRAS and 9 KRAS mutations. Consistent with previous reports (Levinsohn et al., 2013; Sun et al., 2013), the HRAS G13R mutation was present in 85 specimens, but the G12S mutation was not found. Levinsohn et al. (2014) suggested that more strongly activating RAS mutations cause the alopecia and sebaceous hyperplasia of nevus sebaceous, whereas the more mildly activating G12S mutation causes the woolly hair nevus phenotype. </p>
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Meirowski (1942)
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<strong>REFERENCES</strong>
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Bourdeaut, F., Herault, A., Gentien, D., Pierron, G., Ballet, S., Reynaud, S., Paris, R., Schleiermacher, G., Baumann, C., Philippe-Chomette, P., Gauthier-Villars, M., Peuchmaur, M., Radvanyi, F., Delattre, O.
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<strong>Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.</strong>
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Groesser, L., Herschberger, E., Ruetten, A., Ruivenkamp, C., Lopriore, E., Zutt, M., Langmann, T., Singer, S., Klingseisen, L., Schneider-Brachert, W., Toll, A., Real, F. X., Landthaler, M., Hafner, C.
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Hafner, C., Toll, A., Gantner, S., Mauerer, A., Lurkin, I., Acquadro, F., Fernandez-Casado, A., Zwarthoff, E. C., Dietmaier, W., Baselga, E., Parera, E., Vicente, A., Casanova, A., Cigudosa, J., Mentzel, T., Pujol, R. M., Landthaler, M., Real, F. X.
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<strong>Keratinocytic epidermal nevi are associated with mosaic RAS mutations.</strong>
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Hafner, C., Toll, A., Real, F. X.
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<strong>HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. (Letter)</strong>
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New Eng. J. Med. 365: 1940-1942, 2011.
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Hafner, C., van Oers, J. M. M., Vogt, T., Landthaler, M., Stoehr, R., Blaszyk, H., Hofstaedter, F., Zwarthoff, E. C., Hartmann, A.
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<strong>Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.</strong>
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Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A.
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<strong>Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. (Letter)</strong>
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Levinsohn, J. L., Tian, L. C., Boyden, L. M., McNiff, J. M., Narayan, D., Loring, E. S., Yun, D., Sugarman, J. L., Overton, J. D., Mane, S. M., Lifton, R. P., Paller, A. S., Wagner, A. M., Antaya, R. J., Choate, K. A.
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<strong>Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. (Letter)</strong>
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Sun, B. K., Saggini, A., Sarin, K. Y., Kim, J., Benjamin, L., LeBoit, P. E., Khavari, P. A.
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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