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<title>
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Entry
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- #132600 - PILOMATRIXOMA
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- OMIM
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12144&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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91414" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:5374" 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/132600" 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:5374" 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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<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> 274901004, 44155009<br />
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<strong>ORPHA:</strong> 91414<br />
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<strong>DO:</strong> 5374<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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132600
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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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PILOMATRIXOMA
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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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<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>
|
|
<span class="mim-font">
|
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PILOMATRICOMA; PTR<br />
|
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EPITHELIOMA CALCIFICANS OF MALHERBE
|
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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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<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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<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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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/198?start=-3&limit=10&highlight=198">
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3p22.1
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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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Pilomatricoma, 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/132600"> 132600 </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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<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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CTNNB1
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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/116806"> 116806 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/132600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/132600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/132600" 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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- Pilomatrixoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44155009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44155009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274901004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274901004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030434" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030434</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030434" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030434</a>]</span><br /> -
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Superficial, firm, circumscribed nodule <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851527</a>]</span><br /> -
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Usually occurs in the head and neck area <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851528</a>]</span><br /> -
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Derived from hair matrix cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851529</a>]</span><br /> -
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Histology shows exterior zone of densely packed, small basophilic cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851530</a>]</span><br /> -
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Transitional zone of cells with gradual loss of nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851531</a>]</span><br /> -
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Inner zone of enucleated 'shadow' cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851532</a>]</span><br /> -
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Proliferating cells show nuclear expression of lymphoid enhancer binding factor-1 (LEF1, <a href="/entry/153245">153245</a>)<br /> -
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Calcification may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851534</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6595006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6595006</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 beta-1 catenin gene (CTNNB1, <a href="/entry/116806#0006">116806.0006</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 at least some cases of pilomatrixoma are caused by somatic mutation in the beta-catenin gene (CTNNB1; <a href="/entry/116806">116806</a>) on chromosome 3p22.</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>Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by <a href="#8" class="mim-tip-reference" title="Jones, C. D., Ho, W., Robertson, B. F., Gunn, E., Morley, S. <strong>Pilomatrixoma: a comprehensive review of the literature.</strong> Am. J. Dermatopath. 40: 631-641, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30119102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30119102</a>] [<a href="https://doi.org/10.1097/DAD.0000000000001118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30119102">Jones et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30119102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Pilomatrixoma is the term used by <a href="#9" class="mim-tip-reference" title="Jones, P. G., Campbell, P. E. <strong>Pilomatrixoma: a not uncommon hamartoma of infancy and childhood.</strong> Aust. Paediat. J. 5: 162-166, 1969."None>Jones and Campbell (1969)</a> for this tumor. The lesions are firm, circumscribed tumors, usually in the head and neck area, which feel like buttons and are attached to the subcutaneous tissue and overlying skin. <a href="#10" class="mim-tip-reference" title="Kawamura, T., Sekimura, T. <strong>Zwei Faelle von bei Bruder and Schwester vorkommendem verkalktem Epitheliom.</strong> Jpn. J. Derm. Urol. 45: 41 only, 1939."None>Kawamura and Sekimura (1939)</a> observed affected brother and sister. <a href="#4" class="mim-tip-reference" title="Duperrat, B., Albert, (NI). <strong>Forme familiale de l'epitheliome de Malherbe.</strong> Bull. Soc. Franc. Derm. Syph. 55: 196 only, 1948."None>Duperrat and Albert (1948)</a> described 5 affected persons in 2 generations of a family. <a href="#5" class="mim-tip-reference" title="Geiser, J. D. <strong>Forme familiale d'epithelioma (calcifie) de Malherbe.</strong> Dermatologica 120: 361-365, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13704223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13704223</a>]" pmid="13704223">Geiser (1960)</a> reported affected father and daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13704223" 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="#7" class="mim-tip-reference" title="Hills, R. J., Ive, F. A. <strong>Familial multiple pilomatrixomas. (Letter)</strong> Brit. J. Derm. 127: 194-195, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390157</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1992.tb08062.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1390157">Hills and Ive (1992)</a> described a mother and daughter with multiple pilomatrixomas. Neither patient showed any stigmata of myotonic dystrophy (<a href="/entry/160900">160900</a>), and there were no osteomas on skull x-ray. Colonic polyposis was also excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390157" 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>Association with Other Disorders</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Cantwell, A. R., Jr., Reed, W. B. <strong>Myotonia atrophica and multiple calcifying epithelioma of Malherbe.</strong> Acta Derm. Venerol. 45: 387-390, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4162862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4162862</a>]" pmid="4162862">Cantwell and Reed (1965)</a> reported multiple calcifying epithelioma in association with myotonic dystrophy, and <a href="#6" class="mim-tip-reference" title="Harper, P. S. <strong>Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters.</strong> Birth Defects Orig. Art. Ser. VII(8): 343-345, 1971."None>Harper (1971)</a> reported sibs with this combination and has seen at least 6 other confirmed instances of the association. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4162862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Masuno, M., Imaizumi, K., Ishii, T., Kuroki, Y., Baba, N., Tanaka, Y. <strong>Pilomatrixomas in Rubinstein-Taybi syndrome. (Letter)</strong> Am. J. Med. Genet. 77: 81-82, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557902</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<81::aid-ajmg19>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9557902">Masuno et al. (1998)</a> pointed to the occurrence of pilomatrixomas in Rubinstein-Taybi syndrome (<a href="/entry/180849">180849</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9557902" 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 combination of pilomatricomas and adenomatous polyposis coli (<a href="/entry/608456">608456</a>) as an autosomal recessive trait has been reported with mutation in the MYH gene (<a href="/entry/604933">604933</a>) (<a href="#1" class="mim-tip-reference" title="Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M. <strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong> Am. J. Med. Genet. 134A: 212-214, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690400</a>] [<a href="https://doi.org/10.1002/ajmg.a.30585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15690400">Baglioni et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with pilomatrixoma, <a href="#3" class="mim-tip-reference" title="Chan, E. F., Gat, U., McNiff, J. M., Fuchs, E. <strong>A common human skin tumour is caused by activating mutations in beta-catenin.</strong> Nature Genet. 21: 410-413, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10192393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10192393</a>] [<a href="https://doi.org/10.1038/7747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10192393">Chan et al. (1999)</a> identified mutations in the beta-catenin gene (e.g., <a href="/entry/116806#0002">116806.0002</a>). <a href="#12" class="mim-tip-reference" title="Moreno-Bueno, G., Gamallo, C., Perez-Gallego, L., Contreras, F., Palacios, J. <strong>Beta-catenin expression in pilomatrixomas: relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.</strong> Brit. J. Derm. 145: 576-581, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703283</a>] [<a href="https://doi.org/10.1046/j.1365-2133.2001.04455.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703283">Moreno-Bueno et al. (2001)</a> analyzed the expression pattern of beta-catenin in normal anagen hair follicles and in 40 human pilomatrixomas by immunohistochemistry. In 11 of these tumors they also studied exon 3 beta-catenin gene mutations by PCR and direct sequencing. As these mutations have been related to a replication error (RER) phenotype in other tumor types, <a href="#12" class="mim-tip-reference" title="Moreno-Bueno, G., Gamallo, C., Perez-Gallego, L., Contreras, F., Palacios, J. <strong>Beta-catenin expression in pilomatrixomas: relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.</strong> Brit. J. Derm. 145: 576-581, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703283</a>] [<a href="https://doi.org/10.1046/j.1365-2133.2001.04455.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703283">Moreno-Bueno et al. (2001)</a> explored whether or not this association also occurs in pilomatrixomas. Beta-catenin was expressed in the cell membranes of the outer and inner root sheaths and in matrix cells located at the base and periphery of the hair follicle bulb. However, central matrix cells that differentiate into cortical cells, cortical, and cuticular cells expressed beta-catenin in the nucleus, suggesting a role in signal transduction. In addition, some fibroblasts of the dermal papilla also showed nuclear expression of beta-catenin. All 40 analyzed pilomatrixomas showed intense nuclear and cytoplasmic beta-catenin expression in proliferating matrix (basaloid) cells. In areas of maturation, transitional cells mainly showed cytoplasmic and membranous expression of beta-catenin, while only a few cells retained nuclear expression. Shadow or ghost cells did not show beta-catenin expression. Three of 11 tumors (26%) had beta-catenin mutations. All 3 had the same heterozygous missense mutation: a G-to-T change affecting the first nucleotide at codon 32 (<a href="/entry/116806#0016">116806.0016</a>). None of the 11 tumors studied had a positive RER phenotype. <a href="#12" class="mim-tip-reference" title="Moreno-Bueno, G., Gamallo, C., Perez-Gallego, L., Contreras, F., Palacios, J. <strong>Beta-catenin expression in pilomatrixomas: relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.</strong> Brit. J. Derm. 145: 576-581, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703283</a>] [<a href="https://doi.org/10.1046/j.1365-2133.2001.04455.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703283">Moreno-Bueno et al. (2001)</a> concluded that the Wnt/beta-catenin/Tcf-Lef pathway is activated in normal matrix cells of the hair follicle to induce differentiation to the hair shaft. Additionally, the beta-catenin mutation in matrix cells of the hair follicle stabilizes beta-catenin protein, which translocates into the nucleus, where it activates gene transcription together with lymphoid enhancer factor-1 (<a href="/entry/153245">153245</a>)-producing pilomatrixoma. These mutations occur without an underlying defect in DNA mismatch repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10192393+11703283" 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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Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M.
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<strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong>
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Am. J. Med. Genet. 134A: 212-214, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690400" 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/10.1002/ajmg.a.30585" target="_blank">Full Text</a>]
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Cantwell, A. R., Jr., Reed, W. B.
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<strong>Myotonia atrophica and multiple calcifying epithelioma of Malherbe.</strong>
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Acta Derm. Venerol. 45: 387-390, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4162862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4162862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4162862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chan, E. F., Gat, U., McNiff, J. M., Fuchs, E.
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<strong>A common human skin tumour is caused by activating mutations in beta-catenin.</strong>
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Nature Genet. 21: 410-413, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10192393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10192393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10192393" 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/10.1038/7747" target="_blank">Full Text</a>]
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Duperrat, B., Albert, (NI).
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<strong>Forme familiale de l'epitheliome de Malherbe.</strong>
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Bull. Soc. Franc. Derm. Syph. 55: 196 only, 1948.
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Geiser, J. D.
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<strong>Forme familiale d'epithelioma (calcifie) de Malherbe.</strong>
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Dermatologica 120: 361-365, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13704223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13704223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13704223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Harper, P. S.
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<strong>Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters.</strong>
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Birth Defects Orig. Art. Ser. VII(8): 343-345, 1971.
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Hills, R. J., Ive, F. A.
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<strong>Familial multiple pilomatrixomas. (Letter)</strong>
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Brit. J. Derm. 127: 194-195, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1992.tb08062.x" target="_blank">Full Text</a>]
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Jones, C. D., Ho, W., Robertson, B. F., Gunn, E., Morley, S.
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<strong>Pilomatrixoma: a comprehensive review of the literature.</strong>
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Am. J. Dermatopath. 40: 631-641, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30119102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30119102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30119102" 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/10.1097/DAD.0000000000001118" target="_blank">Full Text</a>]
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Jones, P. G., Campbell, P. E.
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<strong>Pilomatrixoma: a not uncommon hamartoma of infancy and childhood.</strong>
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Aust. Paediat. J. 5: 162-166, 1969.
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Kawamura, T., Sekimura, T.
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<strong>Zwei Faelle von bei Bruder and Schwester vorkommendem verkalktem Epitheliom.</strong>
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Jpn. J. Derm. Urol. 45: 41 only, 1939.
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Masuno, M., Imaizumi, K., Ishii, T., Kuroki, Y., Baba, N., Tanaka, Y.
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<strong>Pilomatrixomas in Rubinstein-Taybi syndrome. (Letter)</strong>
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Am. J. Med. Genet. 77: 81-82, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9557902" 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/10.1002/(sici)1096-8628(19980428)77:1<81::aid-ajmg19>3.0.co;2-k" target="_blank">Full Text</a>]
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Moreno-Bueno, G., Gamallo, C., Perez-Gallego, L., Contreras, F., Palacios, J.
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<strong>Beta-catenin expression in pilomatrixomas: relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.</strong>
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Brit. J. Derm. 145: 576-581, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2133.2001.04455.x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/14/2005
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<span class="mim-text-font">
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Gary A. Bellus - updated : 2/24/2003<br>Victor A. McKusick - updated : 4/21/1998
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 02/20/2020
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carol : 06/03/2016<br>terry : 3/19/2012<br>tkritzer : 4/28/2005<br>terry : 4/14/2005<br>alopez : 2/24/2003<br>alopez : 2/24/2003<br>alopez : 2/24/2003<br>alopez : 2/24/2003<br>carol : 4/4/2000<br>carol : 4/3/2000<br>carol : 5/9/1998<br>terry : 4/21/1998<br>mimadm : 9/24/1994<br>carol : 10/8/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<span class="mim-font">
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<strong>#</strong> 132600
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<h3>
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PILOMATRIXOMA
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<em>Alternative titles; symbols</em>
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PILOMATRICOMA; PTR<br />
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EPITHELIOMA CALCIFICANS OF MALHERBE
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<strong>SNOMEDCT:</strong> 274901004, 44155009;
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<strong>ORPHA:</strong> 91414;
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<strong>DO:</strong> 5374;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3p22.1
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Pilomatricoma, somatic
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<span class="mim-font">
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132600
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<span class="mim-font">
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3
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CTNNB1
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<span class="mim-font">
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116806
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because at least some cases of pilomatrixoma are caused by somatic mutation in the beta-catenin gene (CTNNB1; 116806) on chromosome 3p22.</p>
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<strong>Description</strong>
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<p>Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Pilomatrixoma is the term used by Jones and Campbell (1969) for this tumor. The lesions are firm, circumscribed tumors, usually in the head and neck area, which feel like buttons and are attached to the subcutaneous tissue and overlying skin. Kawamura and Sekimura (1939) observed affected brother and sister. Duperrat and Albert (1948) described 5 affected persons in 2 generations of a family. Geiser (1960) reported affected father and daughter. </p><p>Hills and Ive (1992) described a mother and daughter with multiple pilomatrixomas. Neither patient showed any stigmata of myotonic dystrophy (160900), and there were no osteomas on skull x-ray. Colonic polyposis was also excluded. </p><p><strong><em>Association with Other Disorders</em></strong></p><p>
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Cantwell and Reed (1965) reported multiple calcifying epithelioma in association with myotonic dystrophy, and Harper (1971) reported sibs with this combination and has seen at least 6 other confirmed instances of the association. </p><p>Masuno et al. (1998) pointed to the occurrence of pilomatrixomas in Rubinstein-Taybi syndrome (180849). </p><p>A combination of pilomatricomas and adenomatous polyposis coli (608456) as an autosomal recessive trait has been reported with mutation in the MYH gene (604933) (Baglioni et al., 2005). </p>
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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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<span class="mim-text-font">
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<p>In patients with pilomatrixoma, Chan et al. (1999) identified mutations in the beta-catenin gene (e.g., 116806.0002). Moreno-Bueno et al. (2001) analyzed the expression pattern of beta-catenin in normal anagen hair follicles and in 40 human pilomatrixomas by immunohistochemistry. In 11 of these tumors they also studied exon 3 beta-catenin gene mutations by PCR and direct sequencing. As these mutations have been related to a replication error (RER) phenotype in other tumor types, Moreno-Bueno et al. (2001) explored whether or not this association also occurs in pilomatrixomas. Beta-catenin was expressed in the cell membranes of the outer and inner root sheaths and in matrix cells located at the base and periphery of the hair follicle bulb. However, central matrix cells that differentiate into cortical cells, cortical, and cuticular cells expressed beta-catenin in the nucleus, suggesting a role in signal transduction. In addition, some fibroblasts of the dermal papilla also showed nuclear expression of beta-catenin. All 40 analyzed pilomatrixomas showed intense nuclear and cytoplasmic beta-catenin expression in proliferating matrix (basaloid) cells. In areas of maturation, transitional cells mainly showed cytoplasmic and membranous expression of beta-catenin, while only a few cells retained nuclear expression. Shadow or ghost cells did not show beta-catenin expression. Three of 11 tumors (26%) had beta-catenin mutations. All 3 had the same heterozygous missense mutation: a G-to-T change affecting the first nucleotide at codon 32 (116806.0016). None of the 11 tumors studied had a positive RER phenotype. Moreno-Bueno et al. (2001) concluded that the Wnt/beta-catenin/Tcf-Lef pathway is activated in normal matrix cells of the hair follicle to induce differentiation to the hair shaft. Additionally, the beta-catenin mutation in matrix cells of the hair follicle stabilizes beta-catenin protein, which translocates into the nucleus, where it activates gene transcription together with lymphoid enhancer factor-1 (153245)-producing pilomatrixoma. These mutations occur without an underlying defect in DNA mismatch repair. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M.
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<strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong>
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Am. J. Med. Genet. 134A: 212-214, 2005.
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[PubMed: 15690400]
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[Full Text: https://doi.org/10.1002/ajmg.a.30585]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cantwell, A. R., Jr., Reed, W. B.
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<strong>Myotonia atrophica and multiple calcifying epithelioma of Malherbe.</strong>
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Acta Derm. Venerol. 45: 387-390, 1965.
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[PubMed: 4162862]
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<li>
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<p class="mim-text-font">
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Chan, E. F., Gat, U., McNiff, J. M., Fuchs, E.
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<strong>A common human skin tumour is caused by activating mutations in beta-catenin.</strong>
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Nature Genet. 21: 410-413, 1999.
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[PubMed: 10192393]
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[Full Text: https://doi.org/10.1038/7747]
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<li>
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<p class="mim-text-font">
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Duperrat, B., Albert, (NI).
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<strong>Forme familiale de l'epitheliome de Malherbe.</strong>
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Bull. Soc. Franc. Derm. Syph. 55: 196 only, 1948.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Geiser, J. D.
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<strong>Forme familiale d'epithelioma (calcifie) de Malherbe.</strong>
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Dermatologica 120: 361-365, 1960.
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[PubMed: 13704223]
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<li>
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<p class="mim-text-font">
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Harper, P. S.
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<strong>Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters.</strong>
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Birth Defects Orig. Art. Ser. VII(8): 343-345, 1971.
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<li>
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<p class="mim-text-font">
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Hills, R. J., Ive, F. A.
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<strong>Familial multiple pilomatrixomas. (Letter)</strong>
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Brit. J. Derm. 127: 194-195, 1992.
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[PubMed: 1390157]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1992.tb08062.x]
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<li>
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<p class="mim-text-font">
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Jones, C. D., Ho, W., Robertson, B. F., Gunn, E., Morley, S.
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<strong>Pilomatrixoma: a comprehensive review of the literature.</strong>
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Am. J. Dermatopath. 40: 631-641, 2018.
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[PubMed: 30119102]
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[Full Text: https://doi.org/10.1097/DAD.0000000000001118]
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</li>
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<li>
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<p class="mim-text-font">
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Jones, P. G., Campbell, P. E.
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<strong>Pilomatrixoma: a not uncommon hamartoma of infancy and childhood.</strong>
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Aust. Paediat. J. 5: 162-166, 1969.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kawamura, T., Sekimura, T.
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<strong>Zwei Faelle von bei Bruder and Schwester vorkommendem verkalktem Epitheliom.</strong>
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Jpn. J. Derm. Urol. 45: 41 only, 1939.
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</li>
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<li>
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<p class="mim-text-font">
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Masuno, M., Imaizumi, K., Ishii, T., Kuroki, Y., Baba, N., Tanaka, Y.
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<strong>Pilomatrixomas in Rubinstein-Taybi syndrome. (Letter)</strong>
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Am. J. Med. Genet. 77: 81-82, 1998.
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[PubMed: 9557902]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<81::aid-ajmg19>3.0.co;2-k]
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<li>
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<p class="mim-text-font">
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Moreno-Bueno, G., Gamallo, C., Perez-Gallego, L., Contreras, F., Palacios, J.
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<strong>Beta-catenin expression in pilomatrixomas: relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.</strong>
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Brit. J. Derm. 145: 576-581, 2001.
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[PubMed: 11703283]
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[Full Text: https://doi.org/10.1046/j.1365-2133.2001.04455.x]
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</ol>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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 - updated : 4/14/2005<br>Gary A. Bellus - updated : 2/24/2003<br>Victor A. McKusick - updated : 4/21/1998
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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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Victor A. McKusick : 6/4/1986
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carol : 02/20/2020<br>carol : 06/03/2016<br>terry : 3/19/2012<br>tkritzer : 4/28/2005<br>terry : 4/14/2005<br>alopez : 2/24/2003<br>alopez : 2/24/2003<br>alopez : 2/24/2003<br>alopez : 2/24/2003<br>carol : 4/4/2000<br>carol : 4/3/2000<br>carol : 5/9/1998<br>terry : 4/21/1998<br>mimadm : 9/24/1994<br>carol : 10/8/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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