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<title>
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Entry
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- #249400 - MELANOSIS, NEUROCUTANEOUS; NCMS
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- OMIM
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<span class="h4">#249400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/249400"><strong>Clinical Synopsis</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="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MELANOSIS, NEUROCUTANEOUS) OR (NRAS)" 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=2294&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/5161" 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=249400[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=2481" 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/8fbfcdd1-8974-4397-a89c-b881083782e7/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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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<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> 1141661004<br />
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<strong>ORPHA:</strong> 2481<br />
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">ICD+</a>
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</div>
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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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249400
|
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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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MELANOSIS, NEUROCUTANEOUS; NCMS
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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NEUROMELANOSIS
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
|
<span class="mim-font">
|
|
<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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</th>
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</thead>
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/943?start=-3&limit=10&highlight=943">
|
|
1p13.2
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Neurocutaneous melanosis, somatic
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/249400"> 249400 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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NRAS
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/164790"> 164790 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/249400" 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/249400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/249400" 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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- Numerous congenital melanocytic nevi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806415&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806415</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005603</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005603</a>]</span><br /> -
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Giant pigmented nevi, often in lumbosacral region <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012138</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> NEUROLOGIC </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> Central Nervous System </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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- Parenchymal neuromelanosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012131</a>]</span><br /> -
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Dandy-Walker malformation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010964</a>, <a href="https://bioportal.bioontology.org/search?q=C2931867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br /> -
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Delayed development (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Seizures (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Hydrocephalus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
|
|
Leptomeningeal melanocytosis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012133</a>]</span><br /> -
|
|
Choroid plexus papilloma (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156641000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156641000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0205770&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0205770</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200022</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200022</a>]</span><br /> -
|
|
Meningioma (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/724171006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">724171006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1157019008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1157019008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D32.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D32.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025286</a>, <a href="https://bioportal.bioontology.org/search?q=C0281784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002858</a>]</span><br /> -
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Spinal cysts (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231305</a>]</span><br /> -
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Arachnoid cysts (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/785284009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">785284009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0078981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0078981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100702</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100702</a>]</span><br /> -
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Syringomyelia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192894009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192894009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111496009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111496009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G95.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G95.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/336.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">336.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039144</a>, <a href="https://bioportal.bioontology.org/search?q=C0039145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039145</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003396</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> NEOPLASIA </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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- Susceptibility to malignant melanoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3836884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3836884</a>]</span><br />
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- Caused by somatic mutation in the NRAS proto-oncogene gene, GTPase gene (NRAS, <a href="/entry/164790#0002">164790.0002</a>)<br />
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<p>A number sign (#) is used with this entry because neurocutaneous melanosis (NCMS) is caused by somatic mutation in the NRAS gene (<a href="/entry/164790">164790</a>) on chromosome 1p13.</p>
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<p>Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; <a href="/entry/137550">137550</a>). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by <a href="#6" class="mim-tip-reference" title="Kinsler, V. A., Chong, W. K., Aylett, S. E., Atherton, D. J. <strong>Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice.</strong> Brit. J. Derm. 159: 907-914, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18671780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18671780</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2008.08775.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18671780">Kinsler et al., 2008</a>; <a href="#7" class="mim-tip-reference" title="Kinsler, V. A., Thomas, A. C., Ishida, M., Bulstrode, N. W., Loughlin, S., Hing, S., Chalker, J., McKenzie, K., Abu-Amero, S., Slater, O., Chanudet, E., Palmer, R., Morrogh, D., Stanier, P., Healy, E., Sebire, N. J., Moore, G. E. <strong>Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.</strong> J. Invest. Derm. 133: 2229-2236, 2013. Note: Erratum: J. Invest. Derm. 136: 2326 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23392294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23392294</a>] [<a href="https://doi.org/10.1038/jid.2013.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23392294">Kinsler et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23392294+18671780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Demirci, A., Kawamura, Y., Sze, G., Duncan, C. <strong>MR of parenchymal neurocutaneous melanosis.</strong> AJNR 16: 603-606, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7793388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7793388</a>]" pmid="7793388">Demirci et al. (1995)</a> described the MRI appearance of the brain in 2 cases of neurocutaneous melanosis. This demonstrated intraparenchymal melanin deposits but no detectable leptomeningeal abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7793388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Foster, R. D., Williams, M. L., Barkovich, A. J., Hoffman, W. Y., Mathes, S. J., Frieden, I. J. <strong>Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children.</strong> Plast. Reconstr. Surg. 107: 933-941, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11252085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11252085</a>] [<a href="https://doi.org/10.1097/00006534-200104010-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11252085">Foster et al. (2001)</a> reported follow-up of 46 patients with giant congenital melanocytic nevi (<a href="/entry/137550">137550</a>), including 42 who underwent magnetic resonance imaging. MRI abnormalities were detected in 14 of 42 children, most of whom were under 12 months of age. Ten (23%) of the 14 had central nervous system melanosis; less common findings included arachnoid cyst, Chiari type I malformation, and tethered spinal cord, in 1 patient each. Clinical follow-up for an average of 5 years found that only 1 of 46 patients developed neurologic symptoms, including developmental delay, hypotonia, and possible seizures; this patient had neuromelanosis. None of the 46 patients developed a cutaneous or central nervous system melanoma. Neither the location nor the size of the nevus appeared to correlate with the presence or absence of MRI abnormalities. <a href="#3" class="mim-tip-reference" title="Foster, R. D., Williams, M. L., Barkovich, A. J., Hoffman, W. Y., Mathes, S. J., Frieden, I. J. <strong>Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children.</strong> Plast. Reconstr. Surg. 107: 933-941, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11252085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11252085</a>] [<a href="https://doi.org/10.1097/00006534-200104010-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11252085">Foster et al. (2001)</a> concluded that central nervous system melanosis is not a rare event in patients with giant congenital melanocytic nevi, but that most patients with abnormal findings remain asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11252085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kinsler, V. A., Chong, W. K., Aylett, S. E., Atherton, D. J. <strong>Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice.</strong> Brit. J. Derm. 159: 907-914, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18671780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18671780</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2008.08775.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18671780">Kinsler et al. (2008)</a> performed a retrospective study of 120 patients with congenital melanocytic nevi referred to a dermatology clinic between 1991 and 2007 and who underwent central nervous system imaging. None had neurologic complications at the time of referral. The mean age at first MRI was 2.46 years. MRI abnormalities were found in 22 (18%) of patients and were significantly associated with projected adult size of the CMN, particularly greater than 40 cm. The most common finding was neuromelanosis, which was found in 15 patients. Rare findings included choroid plexus papilloma, hydrocephalus, astrocytoma, and posterior fossa arachnoid cyst. Thirteen patients developed neurologic symptoms, including seizures, hemiparesis, reduced muscle tone, spasticity, ataxia, and/or global developmental delay. Five patients with MRI abnormalities remained asymptomatic at a mean age of 3.7 years. In addition, 5 patients with normal brain imaging showed neurologic symptoms. Two of the 120 patients developed fatal malignant melanoma and 1 died of aggressive and proliferative leptomeningeal melanosis, yielding an overall death rate of 2.5%. There was no significant association between CMN distribution and adverse outcomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18671780" 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="#8" class="mim-tip-reference" title="Ramaswamy, V., Delaney, H., Haque, S., Marghoob, A., Khakoo, Y. <strong>Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis.</strong> Dev. Med. Child Neurol. 54: 563-568, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22469364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22469364</a>] [<a href="https://doi.org/10.1111/j.1469-8749.2012.04275.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22469364">Ramaswamy et al. (2012)</a> retrospectively reviewed 14 cases of neurocutaneous melanocytosis. Six patients had died, including 2 in early childhood, 3 in childhood, and 1 at age 28 years. All who died had diffuse leptomeningeal deposits in both the brain and spine. Five developed hydrocephalus with rapidly increasing intracranial pressure; 4 had leptomeningeal melanoma. The most common site for melanocytic deposits was the temporal lobe. The living patients were between 1 and 7 years of age. Only 1 patient had normal brain imaging, but she had focal temporal epilepsy. Three patients with multifocal melanocytic deposits were asymptomatic, and 1 patient with deposits and a spinal arachnoid cyst was asymptomatic. One patient had multifocal melanocytic deposits, seizures, and severe developmental delay. Two additional patients with multifocal deposits and spinal cysts had seizures, including 1 with developmental delay. <a href="#8" class="mim-tip-reference" title="Ramaswamy, V., Delaney, H., Haque, S., Marghoob, A., Khakoo, Y. <strong>Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis.</strong> Dev. Med. Child Neurol. 54: 563-568, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22469364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22469364</a>] [<a href="https://doi.org/10.1111/j.1469-8749.2012.04275.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22469364">Ramaswamy et al. (2012)</a> concluded that patients with neurocutaneous melanocytosis can have a wide range of intracranial and intraspinal abnormalities as well as highly variable clinical outcomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22469364" 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="Kinsler, V. A., Thomas, A. C., Ishida, M., Bulstrode, N. W., Loughlin, S., Hing, S., Chalker, J., McKenzie, K., Abu-Amero, S., Slater, O., Chanudet, E., Palmer, R., Morrogh, D., Stanier, P., Healy, E., Sebire, N. J., Moore, G. E. <strong>Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.</strong> J. Invest. Derm. 133: 2229-2236, 2013. Note: Erratum: J. Invest. Derm. 136: 2326 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23392294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23392294</a>] [<a href="https://doi.org/10.1038/jid.2013.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23392294">Kinsler et al. (2013)</a> studied tissue samples from 15 unrelated patients with congenital melanocytic nevi who ranged in age from 2 to 23 years. Routine brain imaging in the first year of life showed 7 patients with parenchymal neuromelanosis, 1 with frontal lobe meningioma, and 5 with normal findings. However, 1 patient with initial normal findings later developed leptomeningeal melanocytosis, and another later developed hydrocephalus associated with a choroid plexus papilloma. Three patients had significant neurologic findings, such as developmental delay and seizures, although 2 had spinal cord compression and 2 had increased intracranial pressure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23392294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Ferris, M. K., Proud, V. K., Narva, S. F., Nance, W. E. <strong>Neurocutaneous melanosis syndrome. (Abstract)</strong> Am. J. Hum. Genet. 41: A57 only, 1987."None>Ferris et al. (1987)</a> described a patient with neurocutaneous melanosis and suggested that the segmental distribution, sporadic nature, and invariable discordance in identical twins for the occurrence of giant hairy nevi is consistent with the hypothesis that the disease is a consequence of one or more somatic mutations which would result in prenatal lethality if they occurred in the germline cells.</p>
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<p><a href="#7" class="mim-tip-reference" title="Kinsler, V. A., Thomas, A. C., Ishida, M., Bulstrode, N. W., Loughlin, S., Hing, S., Chalker, J., McKenzie, K., Abu-Amero, S., Slater, O., Chanudet, E., Palmer, R., Morrogh, D., Stanier, P., Healy, E., Sebire, N. J., Moore, G. E. <strong>Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.</strong> J. Invest. Derm. 133: 2229-2236, 2013. Note: Erratum: J. Invest. Derm. 136: 2326 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23392294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23392294</a>] [<a href="https://doi.org/10.1038/jid.2013.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23392294">Kinsler et al. (2013)</a> identified somatic oncogenic missense mutations affecting codon 61 of the NRAS gene in affected cutaneous and neurologic tissues from 12 of 15 patients with congenital melanocytic nevus syndrome and/or neurocutaneous melanosis. Affected skin samples from 10 of 13 patients carried a somatic heterozygous mutation, including 8 with Q61K (<a href="/entry/164790#0008">164790.0008</a>) and 2 with Q61R (<a href="/entry/164790#0002">164790.0002</a>). The same codon 61 mutation was found in each of the anatomically separate melanocytic nevi from the same patient. In addition, all 11 neurologic samples from 5 patients from whom neurologic tissue was available were positive for a somatic Q61K mutation; this included both melanocytic and nonmelanocytic tissue, such as a choroid plexus papilloma and meningioma. In patients with both neurologic and skin samples available, the same mutation was present in both affected tissues. None of the patients carried an NRAS mutation in the blood. Pre- and post-malignant skin tissue was available from a patient with malignant melanoma, which showed a progression from heterozygosity to homozygosity for the Q61K mutation with the onset of malignancy. Mutations at codon 61 in the NRAS gene affect the guanosine triphosphate-binding site and result in constitutive activation of NRAS. <a href="#7" class="mim-tip-reference" title="Kinsler, V. A., Thomas, A. C., Ishida, M., Bulstrode, N. W., Loughlin, S., Hing, S., Chalker, J., McKenzie, K., Abu-Amero, S., Slater, O., Chanudet, E., Palmer, R., Morrogh, D., Stanier, P., Healy, E., Sebire, N. J., Moore, G. E. <strong>Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.</strong> J. Invest. Derm. 133: 2229-2236, 2013. Note: Erratum: J. Invest. Derm. 136: 2326 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23392294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23392294</a>] [<a href="https://doi.org/10.1038/jid.2013.70" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23392294">Kinsler et al. (2013)</a> concluded that multiple congenital melanocytic nevi and neuromelanosis, as well as nonmelanocytic CNS lesions, result from somatic mosaicism, and that the mutation probably occurs in a progenitor cell in the developing neural crest or neuroectoderm. The findings also suggested that these mutations may be lethal in the germline. Three of the original 15 patients with CMNS did not have NRAS mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23392294" 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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<strong>See Also:</strong>
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<a href="#Fox1964" class="mim-tip-reference" title="Fox, H., Emery, J. L., Goodbody, R. A., Yates, P. O. <strong>Neuro-cutaneous melanosis.</strong> Arch. Dis. Child. 39: 508-516, 1964.">Fox et al. (1964)</a>; <a href="#Kaplan1975" class="mim-tip-reference" title="Kaplan, A. M., Itabashi, H. H., Hanelin, L. G., Lu, A. T. <strong>Neurocutaneous melanosis with malignant leptomeningeal melanoma.</strong> Arch. Neurol. 32: 669-671, 1975.">Kaplan et al. (1975)</a>; <a href="#Reed1965" class="mim-tip-reference" title="Reed, W. B., Becker, S. W., Becker, S. W., Jr., Nickel, W. R. <strong>Giant pigmented nevi melanoma, and leptomeningeal melanocytosis: a clinical and histopathological study.</strong> Arch. Derm. 91: 100-119, 1965.">Reed et al. (1965)</a>; <a href="#Tveten1965" class="mim-tip-reference" title="Tveten, L. <strong>Primary meningeal melanosis: a clinico-pathological report of two cases.</strong> Acta Path. Microbiol. Scand. 63: 1-10, 1965.">Tveten
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(1965)</a>
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</span>
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<div>
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<br />
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Demirci1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Demirci, A., Kawamura, Y., Sze, G., Duncan, C.
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<strong>MR of parenchymal neurocutaneous melanosis.</strong>
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AJNR 16: 603-606, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7793388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7793388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7793388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Ferris1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ferris, M. K., Proud, V. K., Narva, S. F., Nance, W. E.
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<strong>Neurocutaneous melanosis syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 41: A57 only, 1987.
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<a id="Foster2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Foster, R. D., Williams, M. L., Barkovich, A. J., Hoffman, W. Y., Mathes, S. J., Frieden, I. J.
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<strong>Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children.</strong>
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Plast. Reconstr. Surg. 107: 933-941, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11252085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11252085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11252085" 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/10.1097/00006534-200104010-00005" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Fox1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fox, H., Emery, J. L., Goodbody, R. A., Yates, P. O.
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<strong>Neuro-cutaneous melanosis.</strong>
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Arch. Dis. Child. 39: 508-516, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14223666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14223666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14223666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.39.207.508" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Kaplan1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kaplan, A. M., Itabashi, H. H., Hanelin, L. G., Lu, A. T.
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<strong>Neurocutaneous melanosis with malignant leptomeningeal melanoma.</strong>
|
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Arch. Neurol. 32: 669-671, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1180728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1180728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1180728" 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/10.1001/archneur.1975.00490520039005" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Kinsler2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kinsler, V. A., Chong, W. K., Aylett, S. E., Atherton, D. J.
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<strong>Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice.</strong>
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Brit. J. Derm. 159: 907-914, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18671780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18671780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18671780" 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.1365-2133.2008.08775.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Kinsler2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kinsler, V. A., Thomas, A. C., Ishida, M., Bulstrode, N. W., Loughlin, S., Hing, S., Chalker, J., McKenzie, K., Abu-Amero, S., Slater, O., Chanudet, E., Palmer, R., Morrogh, D., Stanier, P., Healy, E., Sebire, N. J., Moore, G. E.
|
|
<strong>Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.</strong>
|
|
J. Invest. Derm. 133: 2229-2236, 2013. Note: Erratum: J. Invest. Derm. 136: 2326 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23392294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23392294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23392294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jid.2013.70" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Ramaswamy2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramaswamy, V., Delaney, H., Haque, S., Marghoob, A., Khakoo, Y.
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<strong>Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis.</strong>
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Dev. Med. Child Neurol. 54: 563-568, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22469364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22469364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22469364" 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.1469-8749.2012.04275.x" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Reed1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reed, W. B., Becker, S. W., Becker, S. W., Jr., Nickel, W. R.
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<strong>Giant pigmented nevi melanoma, and leptomeningeal melanocytosis: a clinical and histopathological study.</strong>
|
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Arch. Derm. 91: 100-119, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14237589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14237589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14237589" 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/10.1001/archderm.1965.01600080008002" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Tveten1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tveten, L.
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<strong>Primary meningeal melanosis: a clinico-pathological report of two cases.</strong>
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Acta Path. Microbiol. Scand. 63: 1-10, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14276523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14276523</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14276523" 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/apm.1965.63.1.1" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/16/2014
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Orest Hurko - updated : 8/2/1995
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<span class="text-nowrap mim-text-font">
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 09/19/2018
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<span class="mim-text-font">
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carol : 04/18/2014<br>carol : 4/17/2014<br>ckniffin : 4/16/2014<br>dkim : 12/15/1998<br>joanna : 5/8/1998<br>mark : 8/2/1995<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<h3>
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<span class="mim-font">
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<strong>#</strong> 249400
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<h3>
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<span class="mim-font">
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MELANOSIS, NEUROCUTANEOUS; NCMS
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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NEUROMELANOSIS
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1141661004;
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<strong>ORPHA:</strong> 2481;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1p13.2
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<span class="mim-font">
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Neurocutaneous melanosis, somatic
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</td>
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<td>
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<span class="mim-font">
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249400
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<span class="mim-font">
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3
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<span class="mim-font">
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NRAS
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<td>
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<span class="mim-font">
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164790
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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 neurocutaneous melanosis (NCMS) is caused by somatic mutation in the NRAS gene (164790) on chromosome 1p13.</p>
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<strong>Description</strong>
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<p>Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Demirci et al. (1995) described the MRI appearance of the brain in 2 cases of neurocutaneous melanosis. This demonstrated intraparenchymal melanin deposits but no detectable leptomeningeal abnormality. </p><p>Foster et al. (2001) reported follow-up of 46 patients with giant congenital melanocytic nevi (137550), including 42 who underwent magnetic resonance imaging. MRI abnormalities were detected in 14 of 42 children, most of whom were under 12 months of age. Ten (23%) of the 14 had central nervous system melanosis; less common findings included arachnoid cyst, Chiari type I malformation, and tethered spinal cord, in 1 patient each. Clinical follow-up for an average of 5 years found that only 1 of 46 patients developed neurologic symptoms, including developmental delay, hypotonia, and possible seizures; this patient had neuromelanosis. None of the 46 patients developed a cutaneous or central nervous system melanoma. Neither the location nor the size of the nevus appeared to correlate with the presence or absence of MRI abnormalities. Foster et al. (2001) concluded that central nervous system melanosis is not a rare event in patients with giant congenital melanocytic nevi, but that most patients with abnormal findings remain asymptomatic. </p><p>Kinsler et al. (2008) performed a retrospective study of 120 patients with congenital melanocytic nevi referred to a dermatology clinic between 1991 and 2007 and who underwent central nervous system imaging. None had neurologic complications at the time of referral. The mean age at first MRI was 2.46 years. MRI abnormalities were found in 22 (18%) of patients and were significantly associated with projected adult size of the CMN, particularly greater than 40 cm. The most common finding was neuromelanosis, which was found in 15 patients. Rare findings included choroid plexus papilloma, hydrocephalus, astrocytoma, and posterior fossa arachnoid cyst. Thirteen patients developed neurologic symptoms, including seizures, hemiparesis, reduced muscle tone, spasticity, ataxia, and/or global developmental delay. Five patients with MRI abnormalities remained asymptomatic at a mean age of 3.7 years. In addition, 5 patients with normal brain imaging showed neurologic symptoms. Two of the 120 patients developed fatal malignant melanoma and 1 died of aggressive and proliferative leptomeningeal melanosis, yielding an overall death rate of 2.5%. There was no significant association between CMN distribution and adverse outcomes. </p><p>Ramaswamy et al. (2012) retrospectively reviewed 14 cases of neurocutaneous melanocytosis. Six patients had died, including 2 in early childhood, 3 in childhood, and 1 at age 28 years. All who died had diffuse leptomeningeal deposits in both the brain and spine. Five developed hydrocephalus with rapidly increasing intracranial pressure; 4 had leptomeningeal melanoma. The most common site for melanocytic deposits was the temporal lobe. The living patients were between 1 and 7 years of age. Only 1 patient had normal brain imaging, but she had focal temporal epilepsy. Three patients with multifocal melanocytic deposits were asymptomatic, and 1 patient with deposits and a spinal arachnoid cyst was asymptomatic. One patient had multifocal melanocytic deposits, seizures, and severe developmental delay. Two additional patients with multifocal deposits and spinal cysts had seizures, including 1 with developmental delay. Ramaswamy et al. (2012) concluded that patients with neurocutaneous melanocytosis can have a wide range of intracranial and intraspinal abnormalities as well as highly variable clinical outcomes. </p><p>Kinsler et al. (2013) studied tissue samples from 15 unrelated patients with congenital melanocytic nevi who ranged in age from 2 to 23 years. Routine brain imaging in the first year of life showed 7 patients with parenchymal neuromelanosis, 1 with frontal lobe meningioma, and 5 with normal findings. However, 1 patient with initial normal findings later developed leptomeningeal melanocytosis, and another later developed hydrocephalus associated with a choroid plexus papilloma. Three patients had significant neurologic findings, such as developmental delay and seizures, although 2 had spinal cord compression and 2 had increased intracranial pressure. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ferris et al. (1987) described a patient with neurocutaneous melanosis and suggested that the segmental distribution, sporadic nature, and invariable discordance in identical twins for the occurrence of giant hairy nevi is consistent with the hypothesis that the disease is a consequence of one or more somatic mutations which would result in prenatal lethality if they occurred in the germline cells.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kinsler et al. (2013) identified somatic oncogenic missense mutations affecting codon 61 of the NRAS gene in affected cutaneous and neurologic tissues from 12 of 15 patients with congenital melanocytic nevus syndrome and/or neurocutaneous melanosis. Affected skin samples from 10 of 13 patients carried a somatic heterozygous mutation, including 8 with Q61K (164790.0008) and 2 with Q61R (164790.0002). The same codon 61 mutation was found in each of the anatomically separate melanocytic nevi from the same patient. In addition, all 11 neurologic samples from 5 patients from whom neurologic tissue was available were positive for a somatic Q61K mutation; this included both melanocytic and nonmelanocytic tissue, such as a choroid plexus papilloma and meningioma. In patients with both neurologic and skin samples available, the same mutation was present in both affected tissues. None of the patients carried an NRAS mutation in the blood. Pre- and post-malignant skin tissue was available from a patient with malignant melanoma, which showed a progression from heterozygosity to homozygosity for the Q61K mutation with the onset of malignancy. Mutations at codon 61 in the NRAS gene affect the guanosine triphosphate-binding site and result in constitutive activation of NRAS. Kinsler et al. (2013) concluded that multiple congenital melanocytic nevi and neuromelanosis, as well as nonmelanocytic CNS lesions, result from somatic mosaicism, and that the mutation probably occurs in a progenitor cell in the developing neural crest or neuroectoderm. The findings also suggested that these mutations may be lethal in the germline. Three of the original 15 patients with CMNS did not have NRAS mutations. </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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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
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</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Fox et al. (1964); Kaplan et al. (1975); Reed et al. (1965); Tveten
|
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(1965)
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Demirci, A., Kawamura, Y., Sze, G., Duncan, C.
|
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<strong>MR of parenchymal neurocutaneous melanosis.</strong>
|
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AJNR 16: 603-606, 1995.
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[PubMed: 7793388]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ferris, M. K., Proud, V. K., Narva, S. F., Nance, W. E.
|
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<strong>Neurocutaneous melanosis syndrome. (Abstract)</strong>
|
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Am. J. Hum. Genet. 41: A57 only, 1987.
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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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Foster, R. D., Williams, M. L., Barkovich, A. J., Hoffman, W. Y., Mathes, S. J., Frieden, I. J.
|
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<strong>Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children.</strong>
|
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Plast. Reconstr. Surg. 107: 933-941, 2001.
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[PubMed: 11252085]
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[Full Text: https://doi.org/10.1097/00006534-200104010-00005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fox, H., Emery, J. L., Goodbody, R. A., Yates, P. O.
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<strong>Neuro-cutaneous melanosis.</strong>
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Arch. Dis. Child. 39: 508-516, 1964.
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[PubMed: 14223666]
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[Full Text: https://doi.org/10.1136/adc.39.207.508]
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</p>
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<li>
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<p class="mim-text-font">
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Kaplan, A. M., Itabashi, H. H., Hanelin, L. G., Lu, A. T.
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<strong>Neurocutaneous melanosis with malignant leptomeningeal melanoma.</strong>
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Arch. Neurol. 32: 669-671, 1975.
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[PubMed: 1180728]
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[Full Text: https://doi.org/10.1001/archneur.1975.00490520039005]
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</p>
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<li>
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<p class="mim-text-font">
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Kinsler, V. A., Chong, W. K., Aylett, S. E., Atherton, D. J.
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<strong>Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice.</strong>
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Brit. J. Derm. 159: 907-914, 2008.
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[PubMed: 18671780]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2008.08775.x]
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<li>
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<p class="mim-text-font">
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Kinsler, V. A., Thomas, A. C., Ishida, M., Bulstrode, N. W., Loughlin, S., Hing, S., Chalker, J., McKenzie, K., Abu-Amero, S., Slater, O., Chanudet, E., Palmer, R., Morrogh, D., Stanier, P., Healy, E., Sebire, N. J., Moore, G. E.
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<strong>Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.</strong>
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J. Invest. Derm. 133: 2229-2236, 2013. Note: Erratum: J. Invest. Derm. 136: 2326 only, 2016.
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[PubMed: 23392294]
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[Full Text: https://doi.org/10.1038/jid.2013.70]
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</li>
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<li>
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<p class="mim-text-font">
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Ramaswamy, V., Delaney, H., Haque, S., Marghoob, A., Khakoo, Y.
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<strong>Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis.</strong>
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Dev. Med. Child Neurol. 54: 563-568, 2012.
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[PubMed: 22469364]
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[Full Text: https://doi.org/10.1111/j.1469-8749.2012.04275.x]
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</li>
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<li>
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<p class="mim-text-font">
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Reed, W. B., Becker, S. W., Becker, S. W., Jr., Nickel, W. R.
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<strong>Giant pigmented nevi melanoma, and leptomeningeal melanocytosis: a clinical and histopathological study.</strong>
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Arch. Derm. 91: 100-119, 1965.
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[PubMed: 14237589]
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[Full Text: https://doi.org/10.1001/archderm.1965.01600080008002]
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<li>
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<p class="mim-text-font">
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Tveten, L.
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<strong>Primary meningeal melanosis: a clinico-pathological report of two cases.</strong>
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Acta Path. Microbiol. Scand. 63: 1-10, 1965.
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[PubMed: 14276523]
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[Full Text: https://doi.org/10.1111/apm.1965.63.1.1]
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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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Cassandra L. Kniffin - updated : 4/16/2014<br>Orest Hurko - updated : 8/2/1995
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</span>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/19/2018<br>carol : 04/18/2014<br>carol : 4/17/2014<br>ckniffin : 4/16/2014<br>dkim : 12/15/1998<br>joanna : 5/8/1998<br>mark : 8/2/1995<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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