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Entry
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- #604919 - BECKER NEVUS SYNDROME; BNS
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- OMIM
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<p>
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<span class="h4">#604919</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/604919"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(BECKER NEVUS SYNDROME) OR (ACTB)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10859&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/772" 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=604919[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64755" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/7caf0a4a-bc17-494d-bbfa-48923953d07d/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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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> 1332335009<br />
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<strong>ORPHA:</strong> 64755<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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604919
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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BECKER NEVUS SYNDROME; BNS
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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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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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BECKER NEVUS, ISOLATED, INCLUDED; BN, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/46?start=-3&limit=10&highlight=46">
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7p22.1
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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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Becker nevus, syndromic or isolated, somatic mosaic
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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/604919"> 604919 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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ACTB
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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/102630"> 102630 </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/604919" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/604919" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604919" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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> CHEST </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> External Features </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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- Pectoralis muscle hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829765&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829765</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Breasts </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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- Unilateral breast hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844722</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012813</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012813</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8915006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8915006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N64.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N64.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/611.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">611.82</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> 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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- Increased thickness and pigmentation of an area of skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829766</a>]</span><br /> -
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Hair on affected skin (may grow during adolescence) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829767</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin Histology </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Cutaneous hamartoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51697005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51697005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399921006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399921006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1302724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1302724</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031111" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031111</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031111" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031111</a>]</span><br /> -
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Epidermal acanthosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23620008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23620008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221270</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025092</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025092</a>]</span><br /> -
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Flat-tipped rete ridges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883346</a>]</span><br /> -
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Basilar hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883347</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> MUSCLE, SOFT TISSUES </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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- Pectoralis muscle hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829765&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829765</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> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy or childhood<br /> -
|
|
Skin lesion may become more apparent in adolescence<br /> -
|
|
Phenotypic differences attributed to timing and/or lineage of postzygotic mutation<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by somatic mutation in the beta-actin gene (ACTB, <a href="/entry/102630#0011">102630.0011</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Becker nevus syndrome (BNS) is caused by postzygotic mutation, resulting in somatic mosaicism, in the ACTB gene (<a href="/entry/102630">102630</a>) on chromosome 7p22.</p><p>A related disorder, congenital smooth muscle hamartoma with or without hemihypertrophy (CSMH; <a href="/entry/620470">620470</a>), shares clinical and histologic features and is also caused by somatic mutation in the ACTB gene.</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>Becker nevus (BN) is a cutaneous hamartoma affecting approximately 1 in 200 individuals that appears in childhood as a unilateral tan patch, and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles (summary by <a href="#1" class="mim-tip-reference" title="Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y. <strong>Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome.</strong> J. Invest. Derm. 137: 1795-1798, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28347698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28347698</a>] [<a href="https://doi.org/10.1016/j.jid.2017.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28347698">Cai et al., 2017</a>). Becker nevus syndrome (BNS) is a phenotype characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects (<a href="#2" class="mim-tip-reference" title="Happle, R., Koopman, R. J. J. <strong>Becker nevus syndrome.</strong> Am. J. Med. Genet. 68: 357-361, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024572</a>]" pmid="9024572">Happle and Koopman, 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28347698+9024572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Happle, R., Koopman, R. J. J. <strong>Becker nevus syndrome.</strong> Am. J. Med. Genet. 68: 357-361, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024572</a>]" pmid="9024572">Happle and Koopman (1997)</a> reviewed 23 cases of a syndrome characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects, all of which usually involve the same side of the body as the nevus. Histopathologic examination showed that the epidermal component of the nevus consisted of slight acanthosis and hyperpigmentation of basal cells, while the dermal component consisted of numerous bundles of smooth muscle fibers unrelated to hair follicles. Because the nevus is androgen-dependent, it is much less conspicuous in women and prepubertal boys. Other cutaneous anomalies included extensive patchy hypoplasia of ipsilateral subcutaneous fatty tissue, hypoplasia of contralateral labium minus, and ipsilateral accessory scrotum. Eleven of the 16 female patients had ipsilateral hypoplasia of breast. Ipsilateral hypoplasia of the shoulder girdle or absence of the pectoralis major muscle and ipsilateral shortness of the arm were observed. Skeletal anomalies included hemivertebrae or spina bifida occulta, fused or accessory cervical ribs, pectus excavatum, pectus carinatum, and internal tibial torsion. Scoliosis occurred in 28%. The male-to-female ratio was 1:2, but <a href="#2" class="mim-tip-reference" title="Happle, R., Koopman, R. J. J. <strong>Becker nevus syndrome.</strong> Am. J. Med. Genet. 68: 357-361, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024572</a>]" pmid="9024572">Happle and Koopman (1997)</a> suggested that with more thorough clinical studies the true ratio would probably be 1:1. All cases have been sporadic. <a href="#3" class="mim-tip-reference" title="Happle, R. <strong>Epidermal nevus syndromes.</strong> Semin. Derm. 14: 111-121, 1995. Note: Erratum: Semin. Derm. 14: 259 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7640190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7640190</a>] [<a href="https://doi.org/10.1016/s1085-5629(05)80006-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7640190">Happle (1995)</a> proposed that the phenotype results from loss of heterozygosity for the underlying allele and is hence another example of paradominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9024572+7640190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y. <strong>Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome.</strong> J. Invest. Derm. 137: 1795-1798, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28347698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28347698</a>] [<a href="https://doi.org/10.1016/j.jid.2017.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28347698">Cai et al. (2017)</a> reported a 13-year-old girl with Becker nevus syndrome and postzygotic mutation in the ACTB gene. She presented with hyperpigmented patches overlying her arms, legs, torso, and back, and also exhibited unilateral left breast and pectoralis muscle hypoplasia. Lesional skin biopsy showed epidermal acanthosis with flat-tipped rete ridges, basilar hyperpigmentation, and smooth muscle hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28347698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Ramspacher, J., Carmignac, V., Vabres, P., Mazereeuw-Hautier, J. <strong>Becker's naevus syndrome with breast aplasia due to postzygotic mutation of ACTB.</strong> Acta Derm. Venereol. 102: adv00806, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35971836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35971836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35971836[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/10.2340/actadv.v102.1141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35971836">Ramspacher et al. (2022)</a> reported a 17-year-old French girl with Becker nevus syndrome and postzygotic mutation in the ACTB gene. She presented at age 11 years with a light brown hyperpigmented skin lesion on the left hemithorax, extending from the area of the breast to the axilla. She had severe left breast hypoplasia, and ultrasound revealed a hypoplastic left mammary bud. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35971836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The identification of heterozygous mutations in the ACTB gene in Becker nevi, but not in adjacent normal skin, indicated somatic mosaicism. Identification of mutation in pilar muscle from syndromic and nonsyndromic Becker nevi, but not in epidermis or stroma, was consistent with the presence of the mutations in mesenchymal lineage (<a href="#1" class="mim-tip-reference" title="Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y. <strong>Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome.</strong> J. Invest. Derm. 137: 1795-1798, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28347698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28347698</a>] [<a href="https://doi.org/10.1016/j.jid.2017.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28347698">Cai et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28347698" 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 a 13-year-old girl with Becker nevus syndrome, <a href="#1" class="mim-tip-reference" title="Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y. <strong>Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome.</strong> J. Invest. Derm. 137: 1795-1798, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28347698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28347698</a>] [<a href="https://doi.org/10.1016/j.jid.2017.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28347698">Cai et al. (2017)</a> performed exome sequencing of affected and nonaffected skin and identified heterozygosity for a missense mutation in the ACTB gene (R147C; <a href="/entry/102630#0011">102630.0011</a>) in lesional skin that was absent from adjacent normal skin. Analysis of 22 nonsyndromic Becker nevi revealed that 13 contained a hotspot point mutation involving the same codon, including 10 with the R147C substitution and 3 with an R147S substitution (<a href="/entry/102630#0012">102630.0012</a>). Laser-capture microdissection to isolate DNA from epidermis, stroma, and pilar muscles in 1 syndromic and 2 nonsyndromic Becker nevi revealed that in all 3 cases, the ACTB mutation was present only in pilar muscle, with an average allele frequency of 22%. Functional analysis in transfected C2C12 myoblast cells suggested a trend towards increased Hedgehog (see <a href="/entry/600726">600726</a>) pathway signaling. The authors hypothesized that Becker nevus-associated ACTB mutations act in a non-cell autonomous manner, since mutations were identified only in pilar muscle but the clinical phenotype involves hyperplasia of epidermis and hair follicles. They also suggested that Becker nevus syndrome may reflect a mutation earlier in development, affecting multiple cell lineages, compared with isolated Becker nevus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28347698" 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>Using DNA from a biopsy of affected skin from a 17-year-old French girl with Becker nevus syndrome, <a href="#4" class="mim-tip-reference" title="Ramspacher, J., Carmignac, V., Vabres, P., Mazereeuw-Hautier, J. <strong>Becker's naevus syndrome with breast aplasia due to postzygotic mutation of ACTB.</strong> Acta Derm. Venereol. 102: adv00806, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35971836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35971836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35971836[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/10.2340/actadv.v102.1141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35971836">Ramspacher et al. (2022)</a> sequenced the ACTB gene and identified heterozygosity for the previously reported postzygotic missense mutation R147C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35971836" 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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Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y.
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<strong>Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome.</strong>
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J. Invest. Derm. 137: 1795-1798, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28347698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28347698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28347698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Happle, R., Koopman, R. J. J.
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<strong>Becker nevus syndrome.</strong>
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Am. J. Med. Genet. 68: 357-361, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Happle, R.
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<strong>Epidermal nevus syndromes.</strong>
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Semin. Derm. 14: 111-121, 1995. Note: Erratum: Semin. Derm. 14: 259 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7640190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7640190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7640190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1085-5629(05)80006-9" target="_blank">Full Text</a>]
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Ramspacher, J., Carmignac, V., Vabres, P., Mazereeuw-Hautier, J.
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<strong>Becker's naevus syndrome with breast aplasia due to postzygotic mutation of ACTB.</strong>
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Acta Derm. Venereol. 102: adv00806, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35971836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35971836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35971836[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=35971836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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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7p22.1
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Becker nevus, syndromic or isolated, somatic mosaic
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<span class="mim-font">
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604919
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3
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ACTB
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<span class="mim-font">
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102630
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Becker nevus syndrome (BNS) is caused by postzygotic mutation, resulting in somatic mosaicism, in the ACTB gene (102630) on chromosome 7p22.</p><p>A related disorder, congenital smooth muscle hamartoma with or without hemihypertrophy (CSMH; 620470), shares clinical and histologic features and is also caused by somatic mutation in the ACTB gene.</p>
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<strong>Description</strong>
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<p>Becker nevus (BN) is a cutaneous hamartoma affecting approximately 1 in 200 individuals that appears in childhood as a unilateral tan patch, and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles (summary by Cai et al., 2017). Becker nevus syndrome (BNS) is a phenotype characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects (Happle and Koopman, 1997). </p>
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<strong>Clinical Features</strong>
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<p>Happle and Koopman (1997) reviewed 23 cases of a syndrome characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects, all of which usually involve the same side of the body as the nevus. Histopathologic examination showed that the epidermal component of the nevus consisted of slight acanthosis and hyperpigmentation of basal cells, while the dermal component consisted of numerous bundles of smooth muscle fibers unrelated to hair follicles. Because the nevus is androgen-dependent, it is much less conspicuous in women and prepubertal boys. Other cutaneous anomalies included extensive patchy hypoplasia of ipsilateral subcutaneous fatty tissue, hypoplasia of contralateral labium minus, and ipsilateral accessory scrotum. Eleven of the 16 female patients had ipsilateral hypoplasia of breast. Ipsilateral hypoplasia of the shoulder girdle or absence of the pectoralis major muscle and ipsilateral shortness of the arm were observed. Skeletal anomalies included hemivertebrae or spina bifida occulta, fused or accessory cervical ribs, pectus excavatum, pectus carinatum, and internal tibial torsion. Scoliosis occurred in 28%. The male-to-female ratio was 1:2, but Happle and Koopman (1997) suggested that with more thorough clinical studies the true ratio would probably be 1:1. All cases have been sporadic. Happle (1995) proposed that the phenotype results from loss of heterozygosity for the underlying allele and is hence another example of paradominant inheritance. </p><p>Cai et al. (2017) reported a 13-year-old girl with Becker nevus syndrome and postzygotic mutation in the ACTB gene. She presented with hyperpigmented patches overlying her arms, legs, torso, and back, and also exhibited unilateral left breast and pectoralis muscle hypoplasia. Lesional skin biopsy showed epidermal acanthosis with flat-tipped rete ridges, basilar hyperpigmentation, and smooth muscle hypertrophy. </p><p>Ramspacher et al. (2022) reported a 17-year-old French girl with Becker nevus syndrome and postzygotic mutation in the ACTB gene. She presented at age 11 years with a light brown hyperpigmented skin lesion on the left hemithorax, extending from the area of the breast to the axilla. She had severe left breast hypoplasia, and ultrasound revealed a hypoplastic left mammary bud. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The identification of heterozygous mutations in the ACTB gene in Becker nevi, but not in adjacent normal skin, indicated somatic mosaicism. Identification of mutation in pilar muscle from syndromic and nonsyndromic Becker nevi, but not in epidermis or stroma, was consistent with the presence of the mutations in mesenchymal lineage (Cai et al., 2017). </p>
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</span>
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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 a 13-year-old girl with Becker nevus syndrome, Cai et al. (2017) performed exome sequencing of affected and nonaffected skin and identified heterozygosity for a missense mutation in the ACTB gene (R147C; 102630.0011) in lesional skin that was absent from adjacent normal skin. Analysis of 22 nonsyndromic Becker nevi revealed that 13 contained a hotspot point mutation involving the same codon, including 10 with the R147C substitution and 3 with an R147S substitution (102630.0012). Laser-capture microdissection to isolate DNA from epidermis, stroma, and pilar muscles in 1 syndromic and 2 nonsyndromic Becker nevi revealed that in all 3 cases, the ACTB mutation was present only in pilar muscle, with an average allele frequency of 22%. Functional analysis in transfected C2C12 myoblast cells suggested a trend towards increased Hedgehog (see 600726) pathway signaling. The authors hypothesized that Becker nevus-associated ACTB mutations act in a non-cell autonomous manner, since mutations were identified only in pilar muscle but the clinical phenotype involves hyperplasia of epidermis and hair follicles. They also suggested that Becker nevus syndrome may reflect a mutation earlier in development, affecting multiple cell lineages, compared with isolated Becker nevus. </p><p>Using DNA from a biopsy of affected skin from a 17-year-old French girl with Becker nevus syndrome, Ramspacher et al. (2022) sequenced the ACTB gene and identified heterozygosity for the previously reported postzygotic missense mutation R147C. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<ol>
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<p class="mim-text-font">
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Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y.
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<strong>Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome.</strong>
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J. Invest. Derm. 137: 1795-1798, 2017.
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[PubMed: 28347698]
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[Full Text: https://doi.org/10.1016/j.jid.2017.03.017]
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</li>
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<p class="mim-text-font">
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Happle, R., Koopman, R. J. J.
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<strong>Becker nevus syndrome.</strong>
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Am. J. Med. Genet. 68: 357-361, 1997.
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[PubMed: 9024572]
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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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Happle, R.
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<strong>Epidermal nevus syndromes.</strong>
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Semin. Derm. 14: 111-121, 1995. Note: Erratum: Semin. Derm. 14: 259 only, 1995.
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[PubMed: 7640190]
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[Full Text: https://doi.org/10.1016/s1085-5629(05)80006-9]
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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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Ramspacher, J., Carmignac, V., Vabres, P., Mazereeuw-Hautier, J.
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<strong>Becker's naevus syndrome with breast aplasia due to postzygotic mutation of ACTB.</strong>
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Acta Derm. Venereol. 102: adv00806, 2022.
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[PubMed: 35971836]
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[Full Text: https://doi.org/10.2340/actadv.v102.1141]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/09/2023
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Creation Date:
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<span class="mim-text-font">
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Wilson H. Y. Lo : 5/4/2000
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alopez : 08/10/2023<br>alopez : 08/09/2023<br>carol : 08/29/2017<br>carol : 05/04/2000
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