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Entry
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- #182000 - KERATOSIS, SEBORRHEIC
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- OMIM
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<span class="h4">#182000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.diseaseinfosearch.org/x/3987" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=182000[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.alliancegenome.org/disease/DOID:6498" 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/182000" 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:6498" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 25499005, 394726009<br />
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<strong>ICD10CM:</strong> L82, L82.1<br />
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<strong>ICD9CM:</strong> 702.1<br />
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<strong>DO:</strong> 6498<br />
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">ICD+</a>
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</div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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182000
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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KERATOSIS, SEBORRHEIC
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</h3>
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</div>
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<div>
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<br />
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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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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/876?start=-3&limit=10&highlight=876">
|
|
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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Keratosis, seborrheic, somatic
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<a href="/entry/182000"> 182000 </a>
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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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PIK3CA
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<a href="/entry/171834"> 171834 </a>
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<li><a href="/graph/linear/182000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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- Seborrheic keratoses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25499005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25499005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/394726009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">394726009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L82</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L82.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L82.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/702.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">702.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031287</a>]</span><br /> - Congenital seborrheic verrucae<br />
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<strong> Inheritance </strong>
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- Autosomal dominant form <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span 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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<p>A number sign (#) is used with this entry because of evidence that seborrheic keratosis can result from somatic mutations in the FGFR3 gene (<a href="/entry/134934">134934</a>) or the PIK3CA gene (<a href="/entry/171834">171834</a>).</p>
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<p>Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body.</p>
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<p><a href="#5" class="mim-tip-reference" title="Reiches, A. J. <strong>Seborrheic keratoses: are they delayed hereditary nevi?</strong> Arch. Derm. Syph. 65: 596-600, 1952."None>Reiches (1952)</a> described 7 families in which seborrheic keratosis was transmitted through 2 or 3 generations. The keratoses were of late onset. The skin lesions of the basal cell nevus syndrome sometimes resemble seborrheic keratoses.</p><p><a href="#1" class="mim-tip-reference" title="Bedi, T. R. <strong>Familial congenital multiple seborrheic verrucae.</strong> Arch. Derm. 113: 1441-1442, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/143912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">143912</a>]" pmid="143912">Bedi (1977)</a> observed congenital seborrheic verrucae in 11 members in 3 generations of a family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=143912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Butterworth, T., Strean, L. P. <strong>Clinical Genodermatology.</strong> Baltimore: Williams and Wilkins (pub.) 1962."None>Butterworth and Strean (1962)</a> described mother and daughter with seborrheic keratosis and stated that inheritance is autosomal dominant. The transmission pattern of seborrheic keratosis in the families reported by <a href="#5" class="mim-tip-reference" title="Reiches, A. J. <strong>Seborrheic keratoses: are they delayed hereditary nevi?</strong> Arch. Derm. Syph. 65: 596-600, 1952."None>Reiches (1952)</a> and <a href="#1" class="mim-tip-reference" title="Bedi, T. R. <strong>Familial congenital multiple seborrheic verrucae.</strong> Arch. Derm. 113: 1441-1442, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/143912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">143912</a>]" pmid="143912">Bedi (1977)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=143912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Logie, A., Dunois-Larde, C., Rosty, C., Levrel, O., Blanche, M., Ribeiro, A., Gasc, J.-M., Jorcano, J., Werner, S., Sastre-Garau, X., Thiery, J. P., Radvanyi, F. <strong>Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.</strong> Hum. Molec. Genet. 14: 1153-1160, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772091</a>] [<a href="https://doi.org/10.1093/hmg/ddi127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772091">Logie et al. (2005)</a> screened a series of 62 seborrheic keratoses and found 39% of samples harbored somatic activating FGFR3 mutations (see, e.g., <a href="/entry/134934#0005">134934.0005</a> and <a href="/entry/134934#0013">134934.0013</a>) identical to those associated with skeletal dysplasia syndromes and bladder and cervical neoplasms. The authors implicated FGFR3 activation as a major cause of benign epidermal tumors in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="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 heterozygous somatic mutations in the PIK3CA gene (see, e.g., <a href="/entry/171834#0001">171834.0001</a> and <a href="/entry/171834#0003">171834.0003</a>) in 10 (16%) of 62 seborrheic keratosis lesions. Three of the lesions had concomitant somatic mutations in the FGFR3 gene (see, e.g., R248C; <a href="/entry/134934#0005">134934.0005</a>). Histologic analysis identified 8 acanthotic lesions, 1 hyperkeratotic lesion, and 1 adenoid lesion. In 3 patients, multiple individual lesions were analyzed. In 2 patients, all lesions had wildtype PIK3CA and FGFR3 genes, whereas in the third case, 1 lesion had a mutation, and 7 other lesions had wildtype sequences. The findings suggested that, in addition to their role in cancer, oncogenic PIK3CA mutations contribute to the pathogenesis of skin tumors lacking malignant potential. <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>
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<p><a href="#4" class="mim-tip-reference" title="Logie, A., Dunois-Larde, C., Rosty, C., Levrel, O., Blanche, M., Ribeiro, A., Gasc, J.-M., Jorcano, J., Werner, S., Sastre-Garau, X., Thiery, J. P., Radvanyi, F. <strong>Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.</strong> Hum. Molec. Genet. 14: 1153-1160, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772091</a>] [<a href="https://doi.org/10.1093/hmg/ddi127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772091">Logie et al. (2005)</a> targeted an activated FGFR3 mutant, S249C (<a href="/entry/134934#0013">134934.0013</a>), to basal cells of the epidermis of mice. FGFR3-mutant mice developed benign epidermal tumors with no sign of malignancy. These skin lesions had features in common with acanthosis nigricans and other benign human skin tumors, including seborrheic keratosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772091" 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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Bedi, T. R.
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<strong>Familial congenital multiple seborrheic verrucae.</strong>
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Arch. Derm. 113: 1441-1442, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/143912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">143912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=143912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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="2" class="mim-anchor"></a>
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<a id="Butterworth1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Butterworth, T., Strean, L. P.
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<strong>Clinical Genodermatology.</strong>
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Baltimore: Williams and Wilkins (pub.) 1962.
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Hafner2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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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<strong>Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.</strong>
|
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Proc. Nat. Acad. Sci. 104: 13450-13454, 2007.
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0705218104" 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="4" class="mim-anchor"></a>
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<a id="Logie2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Logie, A., Dunois-Larde, C., Rosty, C., Levrel, O., Blanche, M., Ribeiro, A., Gasc, J.-M., Jorcano, J., Werner, S., Sastre-Garau, X., Thiery, J. P., Radvanyi, F.
|
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<strong>Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.</strong>
|
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Hum. Molec. Genet. 14: 1153-1160, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772091" 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/10.1093/hmg/ddi127" 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="5" class="mim-anchor"></a>
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<a id="Reiches1952" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reiches, A. J.
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<strong>Seborrheic keratoses: are they delayed hereditary nevi?</strong>
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Arch. Derm. Syph. 65: 596-600, 1952.
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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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<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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Cassandra L. Kniffin - updated : 10/13/2008
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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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George E. Tiller - updated : 5/19/2008
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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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joanna : 08/04/2016
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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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carol : 01/29/2016<br>carol : 7/3/2012<br>ckniffin : 12/28/2010<br>wwang : 10/23/2008<br>ckniffin : 10/13/2008<br>wwang : 5/21/2008<br>terry : 5/19/2008<br>terry : 6/11/1999<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 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 class="container visible-print-block">
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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> 182000
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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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KERATOSIS, SEBORRHEIC
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 25499005, 394726009;
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<strong>ICD10CM:</strong> L82, L82.1;
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<strong>ICD9CM:</strong> 702.1;
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<strong>DO:</strong> 6498;
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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">
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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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
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3q26.32
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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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Keratosis, seborrheic, 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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182000
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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">
|
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171834
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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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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<strong>TEXT</strong>
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</span>
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</h4>
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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 seborrheic keratosis can result from somatic mutations in the FGFR3 gene (134934) or the PIK3CA gene (171834).</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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<h4>
|
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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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<span class="mim-text-font">
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<p>Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body.</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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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reiches (1952) described 7 families in which seborrheic keratosis was transmitted through 2 or 3 generations. The keratoses were of late onset. The skin lesions of the basal cell nevus syndrome sometimes resemble seborrheic keratoses.</p><p>Bedi (1977) observed congenital seborrheic verrucae in 11 members in 3 generations of a family. </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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<h4>
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<span class="mim-font">
|
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<strong>Inheritance</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Butterworth and Strean (1962) described mother and daughter with seborrheic keratosis and stated that inheritance is autosomal dominant. The transmission pattern of seborrheic keratosis in the families reported by Reiches (1952) and Bedi (1977) was consistent with autosomal dominant inheritance. </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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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Logie et al. (2005) screened a series of 62 seborrheic keratoses and found 39% of samples harbored somatic activating FGFR3 mutations (see, e.g., 134934.0005 and 134934.0013) identical to those associated with skeletal dysplasia syndromes and bladder and cervical neoplasms. The authors implicated FGFR3 activation as a major cause of benign epidermal tumors in humans. </p><p>Hafner et al. (2007) identified heterozygous somatic mutations in the PIK3CA gene (see, e.g., 171834.0001 and 171834.0003) in 10 (16%) of 62 seborrheic keratosis lesions. Three of the lesions had concomitant somatic mutations in the FGFR3 gene (see, e.g., R248C; 134934.0005). Histologic analysis identified 8 acanthotic lesions, 1 hyperkeratotic lesion, and 1 adenoid lesion. In 3 patients, multiple individual lesions were analyzed. In 2 patients, all lesions had wildtype PIK3CA and FGFR3 genes, whereas in the third case, 1 lesion had a mutation, and 7 other lesions had wildtype sequences. The findings suggested that, in addition to their role in cancer, oncogenic PIK3CA mutations contribute to the pathogenesis of skin tumors lacking malignant potential. </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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<h4>
|
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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<span class="mim-text-font">
|
|
<p>Logie et al. (2005) targeted an activated FGFR3 mutant, S249C (134934.0013), to basal cells of the epidermis of mice. FGFR3-mutant mice developed benign epidermal tumors with no sign of malignancy. These skin lesions had features in common with acanthosis nigricans and other benign human skin tumors, including seborrheic keratosis. </p>
|
|
</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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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Bedi, T. R.
|
|
<strong>Familial congenital multiple seborrheic verrucae.</strong>
|
|
Arch. Derm. 113: 1441-1442, 1977.
|
|
|
|
|
|
[PubMed: 143912]
|
|
|
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Butterworth, T., Strean, L. P.
|
|
<strong>Clinical Genodermatology.</strong>
|
|
Baltimore: Williams and Wilkins (pub.) 1962.
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 17673550]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0705218104]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Logie, A., Dunois-Larde, C., Rosty, C., Levrel, O., Blanche, M., Ribeiro, A., Gasc, J.-M., Jorcano, J., Werner, S., Sastre-Garau, X., Thiery, J. P., Radvanyi, F.
|
|
<strong>Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.</strong>
|
|
Hum. Molec. Genet. 14: 1153-1160, 2005.
|
|
|
|
|
|
[PubMed: 15772091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddi127]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reiches, A. J.
|
|
<strong>Seborrheic keratoses: are they delayed hereditary nevi?</strong>
|
|
Arch. Derm. Syph. 65: 596-600, 1952.
|
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Contributors:
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Cassandra L. Kniffin - updated : 10/13/2008<br>George E. Tiller - updated : 5/19/2008
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Creation Date:
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Victor A. McKusick : 6/2/1986
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Edit History:
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<span class="mim-text-font">
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joanna : 08/04/2016<br>carol : 01/29/2016<br>carol : 7/3/2012<br>ckniffin : 12/28/2010<br>wwang : 10/23/2008<br>ckniffin : 10/13/2008<br>wwang : 5/21/2008<br>terry : 5/19/2008<br>terry : 6/11/1999<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/2/1986
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