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Entry
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- #132700 - CYLINDROMATOSIS, FAMILIAL
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- OMIM
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<p>
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<span class="h4">#132700</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/132700"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CYLINDROMATOSIS, FAMILIAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8629&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial cylindromatosis </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11519&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Brooke-Spiegler syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK555820/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=132700[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial cylindromatosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Brooke-Spiegler syndrome</a></div>
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</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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</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> 211710004<br />
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<strong>ORPHA:</strong> 211, 79493<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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132700
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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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CYLINDROMATOSIS, FAMILIAL
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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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ANCELL-SPIEGLER CYLINDROMAS<br />
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'TURBAN TUMOR' SYNDROME<br />
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CYLINDROMAS, DERMAL ECCRINE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/16/430?start=-3&limit=10&highlight=430">
|
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16q12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Cylindromatosis, familial
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/132700"> 132700 </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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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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<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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CYLD
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605018"> 605018 </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/132700" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/132700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/132700" 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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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> SKIN, NAILS, & HAIR </strong>
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- Cylindromas, multiple (face, trunk and extremities) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675676</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302827006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302827006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11671000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11671000</a>]</span><br /> -
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Cylindromas usually occur on the scalp may coalesce into large 'turban tumors' <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675677</a>]</span><br />
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<em> Skin Histology </em>
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- Mosaic-like masses of epithelial cells surrounded by thin layers of PAS-positive stroma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675678</a>]</span><br /> -
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Cells appear to be of glandular origin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675679</a>]</span><br />
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<span class="h5 mim-font">
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<strong> NEOPLASIA </strong>
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- Cylindromas may show malignant transformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675675</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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- Onset in early adulthood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
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Allelic disorder to multiple familial trichoepithelioma 1 (MFT1, <a href="/entry/601606">601606</a>) and Brooke-Spiegler syndrome (BSS, <a href="/entry/605041">605041</a>)<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<div>
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- Caused by mutation in the CYLD gene (<a href="/entry/605018#0001">605018.0001</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that familial cylindromatosis is caused by heterozygous mutation in the CYLD gene (<a href="/entry/605018">605018</a>) on chromosome 16q12.</p><p>See also Brooke-Spiegler syndrome (BRSS; <a href="/entry/605041">605041</a>) and multiple familial trichoepithelioma-1 (MFT1; <a href="/entry/601606">601606</a>), which are allelic disorders with overlapping phenotypes.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (<a href="#12" class="mim-tip-reference" title="Guggenheim, W., Schnyder, U. W. <strong>Zur Nosologie der Spiegler-Brookeschen Tumoren.</strong> Dermatologica 122: 274-278, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13709529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13709529</a>]" pmid="13709529">Guggenheim and Schnyder, 1961</a>; <a href="#25" class="mim-tip-reference" title="Welch, J. P., Wells, R. S., Kerr, C. B. <strong>Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce trichoepitheliomas: evidence for a single genetic entity.</strong> J. Med. Genet. 5: 29-35, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5653864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5653864</a>] [<a href="https://doi.org/10.1136/jmg.5.1.29" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5653864">Welch et al., 1968</a>; <a href="#11" class="mim-tip-reference" title="Gerretsen, A. L., Beemer, F. A., Deenstra, W., Hennekam, F. A. M., van Vloten, W. A. <strong>Familial cutaneous cylindromas: investigations in five generations of a family.</strong> J. Am. Acad. Derm. 33: 199-206, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7622645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7622645</a>] [<a href="https://doi.org/10.1016/0190-9622(95)90234-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7622645">Gerretsen et al., 1995</a>; <a href="#15" class="mim-tip-reference" title="Lee, D. A., Grossman, M. E., Schneiderman, P., Celebi, J. T. <strong>Genetics of skin appendage neoplasms and related syndromes.</strong> J. Med. Genet. 42: 811-819, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16272260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16272260</a>] [<a href="https://doi.org/10.1136/jmg.2004.025577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16272260">Lee et al., 2005</a>; <a href="#9" class="mim-tip-reference" title="Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vazquez, M. E., Celebi, J. T., Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma. <strong>lack of genotype-phenotype correlation.</strong> J. Invest. Derm. 124: 919-920, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15854031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15854031</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23688.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15854031">Bowen et al., 2005</a>; <a href="#26" class="mim-tip-reference" title="Young, A. L., Kellermayer, R., Szigeti, R., Teszas, A., Azmi, S., Celebi, J. T. <strong>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.</strong> Clin. Genet. 70: 246-249, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16922728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16922728</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00667.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16922728">Young et al., 2006</a>; <a href="#17" class="mim-tip-reference" title="Saggar, S., Chernoff, K. A., Lodha, S., Horev, L., Kohl, S., Honjo, R. S., Brandt, H. R. C., Hartmann, K., Celebi, J. T. <strong>CYLD mutations in familial skin appendage tumours. (Letter)</strong> J. Med. Genet. 45: 298-302, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18234730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18234730</a>] [<a href="https://doi.org/10.1136/jmg.2007.056127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18234730">Saggar et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18234730+5653864+16272260+13709529+16922728+7622645+15854031" 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="#22" class="mim-tip-reference" title="van Balkom, I. D. C., Hennekam, R. C. M. <strong>Dermal eccrine cylindromatosis.</strong> J. Med. Genet. 31: 321-324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071959</a>] [<a href="https://doi.org/10.1136/jmg.31.4.321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071959">Van Balkom and Hennekam (1994)</a>, who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071959" 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="Blake, P. W., Toro, J. R. <strong>Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.</strong> Hum. Mutat. 30: 1025-1036, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19462465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19462465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19462465[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19462465">Blake and Toro (2009)</a> provided a detailed review of the spectrum of disorders associated with CYLD mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19462465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Ancell, H. <strong>History of a remarkable case of tumours developed on the head and face; accompanied with a similar disease in the abdomen.</strong> Med. Chir. Trans. 25: 227-246, 1842.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20895749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20895749</a>] [<a href="https://doi.org/10.1177/095952874202500116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20895749">Ancell (1842)</a> and <a href="#19" class="mim-tip-reference" title="Spiegler, E. <strong>Ueber Endotheliome der Haut.</strong> Arch. Derm. Syph. 50: 163-176, 1899."None>Spiegler (1899)</a> described a familial syndrome characterized by tumors of skin appendages, now known as cylindromas (<a href="#15" class="mim-tip-reference" title="Lee, D. A., Grossman, M. E., Schneiderman, P., Celebi, J. T. <strong>Genetics of skin appendage neoplasms and related syndromes.</strong> J. Med. Genet. 42: 811-819, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16272260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16272260</a>] [<a href="https://doi.org/10.1136/jmg.2004.025577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16272260">Lee et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20895749+16272260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Baden, H. P. <strong>Cylindromatosis simulating neurofibromatosis.</strong> New Eng. J. Med. 267: 296-297, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13863824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13863824</a>] [<a href="https://doi.org/10.1056/NEJM196208092670608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13863824">Baden (1962)</a> noted that cylindromatosis can clinically resemble neurofibromatosis (NF1; <a href="/entry/162200">162200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13863824" 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="#25" class="mim-tip-reference" title="Welch, J. P., Wells, R. S., Kerr, C. B. <strong>Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce trichoepitheliomas: evidence for a single genetic entity.</strong> J. Med. Genet. 5: 29-35, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5653864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5653864</a>] [<a href="https://doi.org/10.1136/jmg.5.1.29" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5653864">Welch et al. (1968)</a> presented family data supporting the view that 'Ancell-Spiegler' cylindromas and 'Brooke-Fordyce' trichoepitheliomas were manifestations of a single entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5653864" 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="#13" class="mim-tip-reference" title="Harper, P. S. <strong>Turban tumors (cylindromatosis).</strong> Birth Defects Orig. Art. Ser. VII(8): 338-341, 1971."None>Harper (1971)</a> provided a dramatic example of cylindromatosis that developed into a 'turban tumor,' covering the scalp.</p><p><a href="#24" class="mim-tip-reference" title="Vernon, H. J., Olsen, E. A., Vollmer, R. T. <strong>Autosomal dominant multiple cylindromas associated with solitary lung cylindroma.</strong> J. Am. Acad. Derm. 19: 397-400, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2842382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2842382</a>] [<a href="https://doi.org/10.1016/s0190-9622(88)70186-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2842382">Vernon et al. (1988)</a> described a solitary, apparently benign lung cylindroma in a 42-year-old woman with multiple cutaneous cylindromas. She died from coronary occlusion which occurred precociously in other members of her family, suggesting no connection between the coronary artery disease and the cylindromas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2842382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Gerretsen, A. L., Beemer, F. A., Deenstra, W., Hennekam, F. A. M., van Vloten, W. A. <strong>Familial cutaneous cylindromas: investigations in five generations of a family.</strong> J. Am. Acad. Derm. 33: 199-206, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7622645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7622645</a>] [<a href="https://doi.org/10.1016/0190-9622(95)90234-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7622645">Gerretsen et al. (1995)</a> described a large family in which cutaneous cylindromas occurred in members of 5 generations with 30 affected persons (11 male, 19 female). Trichoepitheliomas and milia were also observed. Female-to-female, female-to-male, male-to-female, and male-to-male inheritance was observed. Penetrance reached 100% in adult life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7622645" 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="#16" class="mim-tip-reference" title="Poblete Gutierrez, P. P., Eggermann, T., Holler, D., Jugert, F. K., Beermann, T., Grussendorf-Conen, E.-I., Zerres, K., Merk, H. F., Frank, J. <strong>Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.</strong> J. Invest. Derm. 119: 527-531, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12190880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12190880</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01839.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12190880">Poblete Gutierrez et al. (2002)</a> reported a 4-generation German family in which 4 individuals had skin appendage tumors inherited in an autosomal dominant pattern. The eldest affected member, deceased at the time of the report, had turban tumor-like cylindromas of the scalp and nasolabial region confirmed by histologic examination. Small nasolabial tumors from a woman in the third generation showed cylindromas on histology. The youngest family member, in the fourth generation, had cylindromas of the nasolabial region and trichoepitheliomas of the nose and scalp. <a href="#16" class="mim-tip-reference" title="Poblete Gutierrez, P. P., Eggermann, T., Holler, D., Jugert, F. K., Beermann, T., Grussendorf-Conen, E.-I., Zerres, K., Merk, H. F., Frank, J. <strong>Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.</strong> J. Invest. Derm. 119: 527-531, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12190880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12190880</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01839.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12190880">Poblete Gutierrez et al. (2002)</a> commented on the intrafamilial as well as intraindividual phenotypic variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12190880" 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="#20" class="mim-tip-reference" title="Stoll, C., Alembik, Y., Wilk, A., Grosshans, E. <strong>Familial cylindromatosis.</strong> Genet. Counsel. 15: 175-182, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15287417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15287417</a>]" pmid="15287417">Stoll et al. (2004)</a> reported a mother and daughter with familial cylindromatosis. The dermal eccrine cylindroma arose as small solitary lesions in the mother at age 28 years. Other tumors arose, and she had surgery multiple times. The daughter developed lesions on the frontal part of the scalp at age 23 years. Family history revealed that the mother's sister was also affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15287417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of familial cylindromatosis in the family reported by <a href="#16" class="mim-tip-reference" title="Poblete Gutierrez, P. P., Eggermann, T., Holler, D., Jugert, F. K., Beermann, T., Grussendorf-Conen, E.-I., Zerres, K., Merk, H. F., Frank, J. <strong>Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.</strong> J. Invest. Derm. 119: 527-531, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12190880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12190880</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01839.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12190880">Poblete Gutierrez et al. (2002)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12190880" 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>Studying 2 families with cylindromatosis, <a href="#4" class="mim-tip-reference" title="Biggs, P. J., Wooster, R., Ford, D., Chapman, P., Mangion, J., Quirk, Y., Easton, D. F., Burn, J., Stratton, M. R. <strong>Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.</strong> Nature Genet. 11: 441-443, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493027</a>] [<a href="https://doi.org/10.1038/ng1295-441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493027">Biggs et al. (1995)</a> found strong evidence for linkage to chromosome 16q12-q13. There was consistent loss of the wildtype allele near these markers in 19 tumors from 4 individuals, suggesting that the gene was a tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493027" 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="#23" class="mim-tip-reference" title="Verhoef, S., Schrander-Stumpel, C. T. R. M., Vuzevski, V. D., Tempelaars, A., Jansen, L. A. J., Malfeyt, G. A. M., Ceelen, T. L., Lindhout, D., Halley, D. J. J., van den Ouweland, A. M. W. <strong>Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.</strong> J. Med. Genet. 35: 841-845, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9783709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9783709</a>] [<a href="https://doi.org/10.1136/jmg.35.10.841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9783709">Verhoef et al. (1998)</a> studied a large Dutch family in which affected members had originally been given the diagnosis of tuberous sclerosis. Linkage was excluded from both of 2 chromosomal regions involved in tuberous sclerosis complex on 9q34 (TSC1; <a href="/entry/191100">191100</a>) and 16p13 (TSC2; <a href="/entry/613254">613254</a>). Reevaluation of the clinical and pathologic data led to a change of the working diagnosis to autosomal dominant cylindromatosis. Subsequent linkage analysis showed a lod score of 3.02 with marker D16S308 at chromosome 16q12-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9783709" 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="Biggs, P. J., Chapman, P., Lakhani, S. R., Burn, J., Stratton, M. R. <strong>The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas.</strong> Oncogene 12: 1375-1377, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8649842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8649842</a>]" pmid="8649842">Biggs et al. (1996)</a> examined polymorphic markers on each chromosome, some of which are close to known tumor suppressor genes, in 25 tumors from 4 individuals with familial cylindromatosis. No loss of heterozygosity (LOH) was detected other than that at loci on chromosome 16q. They suggested that the candidate gene, which they symbolized CYLD1, may be the only tumor suppressor gene implicated in the development of cylindromas. They also demonstrated LOH using markers on chromosome 16q in 8 of 14 (57%) sporadic cylindromas, indicating that the CYLD gene is probably involved in the genesis of both familial and sporadic cylindromas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8649842" 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="#21" class="mim-tip-reference" title="Takahashi, M., Rapley, E., Biggs, P. J., Lakhani, S. R., Cooke, D., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Evans, D. G., Schrander-Stumpel, C., and 17 others. <strong>Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.</strong> Hum. Genet. 106: 58-65, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982183</a>] [<a href="https://doi.org/10.1007/s004399900227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982183">Takahashi et al. (2000)</a> evaluated 19 families with this disorder by a combination of genetic linkage analysis and LOH in cylindromas from affected persons. All 15 informative families showed linkage to 16q12-q13, thus providing no evidence for genetic heterogeneity. Recombinant mapping placed the gene in an interval of approximately 1 Mb. There was no evidence of haplotype sharing between families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982183" 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="#5" class="mim-tip-reference" title="Bignell, G. R., Warren, W., Seal, S., Takahashi, M., Rapley, E., Barfoot, R., Green, H., Brown, C., Biggs, P. J., Lakhani, S. R., Jones, C., Hansen, J., and 29 others. <strong>Identification of the familial cylindromatosis tumour-suppressor gene.</strong> Nature Genet. 25: 160-165, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835629</a>] [<a href="https://doi.org/10.1038/76006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835629">Bignell et al. (2000)</a> identified 21 different germline mutations in the CYLD gene in affected members of 21 families with cylindromatosis. Six somatic mutations were identified in 1 patient with sporadic disease and 5 patients with familial disease. All mutations predicted truncation or absence of the encoded protein (see, e.g., <a href="/entry/605018#0001">605018.0001</a>-<a href="/entry/605018#0002">605018.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835629" 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>In affected members of a German family with cylindromas, including 1 patient who also had trichoepitheliomas, suggesting BRSS, <a href="#16" class="mim-tip-reference" title="Poblete Gutierrez, P. P., Eggermann, T., Holler, D., Jugert, F. K., Beermann, T., Grussendorf-Conen, E.-I., Zerres, K., Merk, H. F., Frank, J. <strong>Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.</strong> J. Invest. Derm. 119: 527-531, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12190880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12190880</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01839.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12190880">Poblete Gutierrez et al. (2002)</a> identified a heterozygous truncating mutation in the CYLD gene (<a href="/entry/605018#0003">605018.0003</a>). The results indicated that a single CYLD mutation can result in phenotypically different tumor types, indicating that cylindromas and trichoepitheliomas are allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12190880" 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="#26" class="mim-tip-reference" title="Young, A. L., Kellermayer, R., Szigeti, R., Teszas, A., Azmi, S., Celebi, J. T. <strong>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.</strong> Clin. Genet. 70: 246-249, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16922728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16922728</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00667.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16922728">Young et al. (2006)</a> identified a heterozygous mutation in the CYLD gene (<a href="/entry/605018#0008">605018.0008</a>) in a 73-year-old man with cylindromatosis and turban tumor syndrome and in his 2 children with multiple familial trichoepitheliomas without cylindromas. The findings suggested that the 2 disorders represent phenotypic variation of a single genetic defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16922728" 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="#17" class="mim-tip-reference" title="Saggar, S., Chernoff, K. A., Lodha, S., Horev, L., Kohl, S., Honjo, R. S., Brandt, H. R. C., Hartmann, K., Celebi, J. T. <strong>CYLD mutations in familial skin appendage tumours. (Letter)</strong> J. Med. Genet. 45: 298-302, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18234730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18234730</a>] [<a href="https://doi.org/10.1136/jmg.2007.056127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18234730">Saggar et al. (2008)</a> performed genetic analysis of 25 probands with familial skin appendage tumors. In total, 18 mutations in CYLD, including 6 novel mutations, were identified in 25 probands (72%). The mutation frequencies among distinct phenotypes were 85% for BRSS, 100% for FC, and 44% for MFT1. The majority of the mutations resulted in truncated proteins. There were no apparent genotype-phenotype correlations. <a href="#17" class="mim-tip-reference" title="Saggar, S., Chernoff, K. A., Lodha, S., Horev, L., Kohl, S., Honjo, R. S., Brandt, H. R. C., Hartmann, K., Celebi, J. T. <strong>CYLD mutations in familial skin appendage tumours. (Letter)</strong> J. Med. Genet. 45: 298-302, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18234730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18234730</a>] [<a href="https://doi.org/10.1136/jmg.2007.056127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18234730">Saggar et al. (2008)</a> concluded that mutations in the CYLD gene underlie all 3 disorders, but that the reasons for phenotypic variability remain to be explored. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18234730" 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="#18" class="mim-tip-reference" title="Schmidt-Baumler, H. <strong>Familiares Cylindrome. Ein Beitrag zur Frage der geschlechtsbegrenzten Vererbung.</strong> Arch. Derm. Syph. 163: 114-125, 1931."None>Schmidt-Baumler (1931)</a> raised the question of X-linked dominant inheritance. The pedigree of <a href="#8" class="mim-tip-reference" title="Blandy, J. P., Gammie, W. F. P., Stovin, P. G. I., Swettenham, K. <strong>Turban tumours in brother and sister.</strong> Brit. J. Surg. 49: 136-140, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13869820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13869820</a>] [<a href="https://doi.org/10.1002/bjs.18004921405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13869820">Blandy et al. (1961)</a> showed an affected male who had all daughters affected and all sons unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13869820" 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>Up to the end of 1954, <a href="#10" class="mim-tip-reference" title="Evans, J. C., Efskind, J., Roberts, T. W. <strong>Cylindroma.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 96: 191-196, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4285059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4285059</a>] [<a href="https://doi.org/10.2214/ajr.96.1.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4285059">Evans et al. (1966)</a> found 47 reported cases of cylindroma, of which 30 were female. The authors noted that the term cylindroma had also been applied by <a href="#6" class="mim-tip-reference" title="Billroth, T. <strong>Beobachtungen ueber Geschwuelste der Speicheldruesen.</strong> Virchows Arch. Path. Anat. 17: 357-375, 1859."None>Billroth (1859)</a> to a type of adenocarcinoma arising in salivary gland tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4285059" 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="#14" class="mim-tip-reference" title="Hart, G. D. <strong>The diagnosis of disease from ancient coins.</strong> Archaeology 26: 123-127, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11620339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11620339</a>]" pmid="11620339">Hart (1973)</a> suggested that the lesions of hereditary multiple benign cystic epithelioma could be discerned in ancient Parthian coins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11620339" 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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Ancell, H.
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<strong>History of a remarkable case of tumours developed on the head and face; accompanied with a similar disease in the abdomen.</strong>
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Med. Chir. Trans. 25: 227-246, 1842.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20895749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20895749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20895749" 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/10.1177/095952874202500116" target="_blank">Full Text</a>]
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Baden, H. P.
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<strong>Cylindromatosis simulating neurofibromatosis.</strong>
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New Eng. J. Med. 267: 296-297, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13863824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13863824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13863824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM196208092670608" target="_blank">Full Text</a>]
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Biggs, P. J., Chapman, P., Lakhani, S. R., Burn, J., Stratton, M. R.
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<strong>The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas.</strong>
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Oncogene 12: 1375-1377, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8649842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8649842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8649842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Biggs, P. J., Wooster, R., Ford, D., Chapman, P., Mangion, J., Quirk, Y., Easton, D. F., Burn, J., Stratton, M. R.
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<strong>Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.</strong>
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Nature Genet. 11: 441-443, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493027" 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/ng1295-441" target="_blank">Full Text</a>]
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Bignell, G. R., Warren, W., Seal, S., Takahashi, M., Rapley, E., Barfoot, R., Green, H., Brown, C., Biggs, P. J., Lakhani, S. R., Jones, C., Hansen, J., and 29 others.
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<strong>Identification of the familial cylindromatosis tumour-suppressor gene.</strong>
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Nature Genet. 25: 160-165, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835629" 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/10.1038/76006" target="_blank">Full Text</a>]
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<strong>Beobachtungen ueber Geschwuelste der Speicheldruesen.</strong>
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Virchows Arch. Path. Anat. 17: 357-375, 1859.
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<strong>Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.</strong>
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Hum. Mutat. 30: 1025-1036, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19462465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19462465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19462465[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19462465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21024" target="_blank">Full Text</a>]
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Blandy, J. P., Gammie, W. F. P., Stovin, P. G. I., Swettenham, K.
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<strong>Turban tumours in brother and sister.</strong>
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Brit. J. Surg. 49: 136-140, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13869820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13869820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13869820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/bjs.18004921405" target="_blank">Full Text</a>]
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Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vazquez, M. E., Celebi, J. T., Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma.
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<strong>lack of genotype-phenotype correlation.</strong>
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J. Invest. Derm. 124: 919-920, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15854031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15854031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15854031" 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.0022-202X.2005.23688.x" target="_blank">Full Text</a>]
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Evans, J. C., Efskind, J., Roberts, T. W.
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<strong>Cylindroma.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 96: 191-196, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4285059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4285059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4285059" 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/10.2214/ajr.96.1.191" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0190-9622(95)90234-1" target="_blank">Full Text</a>]
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<strong>Zur Nosologie der Spiegler-Brookeschen Tumoren.</strong>
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[<a href="https://doi.org/10.1136/jmg.2004.025577" target="_blank">Full Text</a>]
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<a id="Poblete Gutierrez2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Poblete Gutierrez, P. P., Eggermann, T., Holler, D., Jugert, F. K., Beermann, T., Grussendorf-Conen, E.-I., Zerres, K., Merk, H. F., Frank, J.
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<strong>Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12190880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12190880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12190880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.2002.01839.x" target="_blank">Full Text</a>]
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<a id="Saggar2008" class="mim-anchor"></a>
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<div class="">
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<strong>CYLD mutations in familial skin appendage tumours. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18234730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18234730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18234730" 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/jmg.2007.056127" target="_blank">Full Text</a>]
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<a id="Schmidt-Baumler1931" class="mim-anchor"></a>
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<p class="mim-text-font">
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Schmidt-Baumler, H.
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<strong>Familiares Cylindrome. Ein Beitrag zur Frage der geschlechtsbegrenzten Vererbung.</strong>
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<a id="Spiegler1899" class="mim-anchor"></a>
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Spiegler, E.
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<strong>Ueber Endotheliome der Haut.</strong>
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<a id="Stoll2004" class="mim-anchor"></a>
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<strong>Familial cylindromatosis.</strong>
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</p>
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<a id="21" class="mim-anchor"></a>
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<a id="Takahashi2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takahashi, M., Rapley, E., Biggs, P. J., Lakhani, S. R., Cooke, D., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Evans, D. G., Schrander-Stumpel, C., and 17 others.
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<strong>Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.</strong>
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Hum. Genet. 106: 58-65, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982183</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982183" 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/10.1007/s004399900227" target="_blank">Full Text</a>]
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<a id="van Balkom1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Balkom, I. D. C., Hennekam, R. C. M.
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<strong>Dermal eccrine cylindromatosis.</strong>
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J. Med. Genet. 31: 321-324, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071959" 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/jmg.31.4.321" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Verhoef1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verhoef, S., Schrander-Stumpel, C. T. R. M., Vuzevski, V. D., Tempelaars, A., Jansen, L. A. J., Malfeyt, G. A. M., Ceelen, T. L., Lindhout, D., Halley, D. J. J., van den Ouweland, A. M. W.
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<strong>Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9783709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9783709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9783709" 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/jmg.35.10.841" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Vernon1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vernon, H. J., Olsen, E. A., Vollmer, R. T.
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<strong>Autosomal dominant multiple cylindromas associated with solitary lung cylindroma.</strong>
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J. Am. Acad. Derm. 19: 397-400, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2842382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2842382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2842382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0190-9622(88)70186-3" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Welch1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Welch, J. P., Wells, R. S., Kerr, C. B.
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<strong>Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce trichoepitheliomas: evidence for a single genetic entity.</strong>
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J. Med. Genet. 5: 29-35, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5653864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5653864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5653864" 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/jmg.5.1.29" target="_blank">Full Text</a>]
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<a id="Young2006" class="mim-anchor"></a>
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<p class="mim-text-font">
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Young, A. L., Kellermayer, R., Szigeti, R., Teszas, A., Azmi, S., Celebi, J. T.
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<strong>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.</strong>
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Clin. Genet. 70: 246-249, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16922728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16922728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16922728" 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.1399-0004.2006.00667.x" target="_blank">Full Text</a>]
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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 : 11/10/2009
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 6/17/2008<br>Cassandra L. Kniffin - updated : 6/16/2008<br>Victor A. McKusick - updated : 8/23/2004<br>Victor A. McKusick - updated : 2/29/2000<br>Michael J. Wright - updated : 11/9/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 09/04/2024
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carol : 08/21/2017<br>carol : 08/11/2016<br>carol : 05/17/2016<br>mcolton : 3/4/2015<br>carol : 7/26/2011<br>carol : 2/18/2010<br>wwang : 12/3/2009<br>ckniffin : 11/10/2009<br>carol : 6/17/2008<br>ckniffin : 6/16/2008<br>tkritzer : 9/1/2004<br>terry : 8/23/2004<br>carol : 12/12/2003<br>carol : 12/12/2003<br>carol : 11/5/2003<br>alopez : 8/15/2000<br>alopez : 6/12/2000<br>alopez : 5/26/2000<br>alopez : 2/29/2000<br>alopez : 12/11/1998<br>terry : 11/9/1998<br>alopez : 9/23/1998<br>terry : 11/11/1997<br>mark : 1/6/1997<br>terry : 11/19/1996<br>terry : 11/15/1996<br>terry : 11/6/1996<br>mark : 4/28/1996<br>mark : 4/28/1996<br>terry : 4/22/1996<br>mark : 1/4/1996<br>terry : 1/3/1996<br>mark : 12/20/1995<br>terry : 12/15/1995<br>mark : 10/13/1995<br>mimadm : 9/24/1994<br>jason : 7/14/1994<br>supermim : 3/16/1992<br>carol : 2/27/1992<br>supermim : 3/20/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 132700
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</h3>
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<h3>
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<span class="mim-font">
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CYLINDROMATOSIS, FAMILIAL
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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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ANCELL-SPIEGLER CYLINDROMAS<br />
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'TURBAN TUMOR' SYNDROME<br />
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CYLINDROMAS, DERMAL ECCRINE
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<strong>SNOMEDCT:</strong> 211710004;
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<strong>ORPHA:</strong> 211, 79493;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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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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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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16q12.1
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</td>
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<td>
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<span class="mim-font">
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Cylindromatosis, familial
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</td>
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<span class="mim-font">
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132700
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</td>
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<span class="mim-font">
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Autosomal dominant
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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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CYLD
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</td>
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<td>
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<span class="mim-font">
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605018
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</span>
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</tr>
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that familial cylindromatosis is caused by heterozygous mutation in the CYLD gene (605018) on chromosome 16q12.</p><p>See also Brooke-Spiegler syndrome (BRSS; 605041) and multiple familial trichoepithelioma-1 (MFT1; 601606), which are allelic disorders with overlapping phenotypes.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). </p><p>Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands. </p><p>Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Ancell (1842) and Spiegler (1899) described a familial syndrome characterized by tumors of skin appendages, now known as cylindromas (Lee et al., 2005). </p><p>Baden (1962) noted that cylindromatosis can clinically resemble neurofibromatosis (NF1; 162200). </p><p>Welch et al. (1968) presented family data supporting the view that 'Ancell-Spiegler' cylindromas and 'Brooke-Fordyce' trichoepitheliomas were manifestations of a single entity. </p><p>Harper (1971) provided a dramatic example of cylindromatosis that developed into a 'turban tumor,' covering the scalp.</p><p>Vernon et al. (1988) described a solitary, apparently benign lung cylindroma in a 42-year-old woman with multiple cutaneous cylindromas. She died from coronary occlusion which occurred precociously in other members of her family, suggesting no connection between the coronary artery disease and the cylindromas. </p><p>Gerretsen et al. (1995) described a large family in which cutaneous cylindromas occurred in members of 5 generations with 30 affected persons (11 male, 19 female). Trichoepitheliomas and milia were also observed. Female-to-female, female-to-male, male-to-female, and male-to-male inheritance was observed. Penetrance reached 100% in adult life. </p><p>Poblete Gutierrez et al. (2002) reported a 4-generation German family in which 4 individuals had skin appendage tumors inherited in an autosomal dominant pattern. The eldest affected member, deceased at the time of the report, had turban tumor-like cylindromas of the scalp and nasolabial region confirmed by histologic examination. Small nasolabial tumors from a woman in the third generation showed cylindromas on histology. The youngest family member, in the fourth generation, had cylindromas of the nasolabial region and trichoepitheliomas of the nose and scalp. Poblete Gutierrez et al. (2002) commented on the intrafamilial as well as intraindividual phenotypic variability. </p><p>Stoll et al. (2004) reported a mother and daughter with familial cylindromatosis. The dermal eccrine cylindroma arose as small solitary lesions in the mother at age 28 years. Other tumors arose, and she had surgery multiple times. The daughter developed lesions on the frontal part of the scalp at age 23 years. Family history revealed that the mother's sister was also affected. </p>
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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>The transmission pattern of familial cylindromatosis in the family reported by Poblete Gutierrez et al. (2002) was consistent with autosomal dominant inheritance. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Studying 2 families with cylindromatosis, Biggs et al. (1995) found strong evidence for linkage to chromosome 16q12-q13. There was consistent loss of the wildtype allele near these markers in 19 tumors from 4 individuals, suggesting that the gene was a tumor suppressor gene. </p><p>Verhoef et al. (1998) studied a large Dutch family in which affected members had originally been given the diagnosis of tuberous sclerosis. Linkage was excluded from both of 2 chromosomal regions involved in tuberous sclerosis complex on 9q34 (TSC1; 191100) and 16p13 (TSC2; 613254). Reevaluation of the clinical and pathologic data led to a change of the working diagnosis to autosomal dominant cylindromatosis. Subsequent linkage analysis showed a lod score of 3.02 with marker D16S308 at chromosome 16q12-q13. </p><p>Biggs et al. (1996) examined polymorphic markers on each chromosome, some of which are close to known tumor suppressor genes, in 25 tumors from 4 individuals with familial cylindromatosis. No loss of heterozygosity (LOH) was detected other than that at loci on chromosome 16q. They suggested that the candidate gene, which they symbolized CYLD1, may be the only tumor suppressor gene implicated in the development of cylindromas. They also demonstrated LOH using markers on chromosome 16q in 8 of 14 (57%) sporadic cylindromas, indicating that the CYLD gene is probably involved in the genesis of both familial and sporadic cylindromas. </p><p>Takahashi et al. (2000) evaluated 19 families with this disorder by a combination of genetic linkage analysis and LOH in cylindromas from affected persons. All 15 informative families showed linkage to 16q12-q13, thus providing no evidence for genetic heterogeneity. Recombinant mapping placed the gene in an interval of approximately 1 Mb. There was no evidence of haplotype sharing between families. </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>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>Bignell et al. (2000) identified 21 different germline mutations in the CYLD gene in affected members of 21 families with cylindromatosis. Six somatic mutations were identified in 1 patient with sporadic disease and 5 patients with familial disease. All mutations predicted truncation or absence of the encoded protein (see, e.g., 605018.0001-605018.0002). </p><p>In affected members of a German family with cylindromas, including 1 patient who also had trichoepitheliomas, suggesting BRSS, Poblete Gutierrez et al. (2002) identified a heterozygous truncating mutation in the CYLD gene (605018.0003). The results indicated that a single CYLD mutation can result in phenotypically different tumor types, indicating that cylindromas and trichoepitheliomas are allelic disorders. </p><p>Young et al. (2006) identified a heterozygous mutation in the CYLD gene (605018.0008) in a 73-year-old man with cylindromatosis and turban tumor syndrome and in his 2 children with multiple familial trichoepitheliomas without cylindromas. The findings suggested that the 2 disorders represent phenotypic variation of a single genetic defect. </p><p>Saggar et al. (2008) performed genetic analysis of 25 probands with familial skin appendage tumors. In total, 18 mutations in CYLD, including 6 novel mutations, were identified in 25 probands (72%). The mutation frequencies among distinct phenotypes were 85% for BRSS, 100% for FC, and 44% for MFT1. The majority of the mutations resulted in truncated proteins. There were no apparent genotype-phenotype correlations. Saggar et al. (2008) concluded that mutations in the CYLD gene underlie all 3 disorders, but that the reasons for phenotypic variability remain to be explored. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>Schmidt-Baumler (1931) raised the question of X-linked dominant inheritance. The pedigree of Blandy et al. (1961) showed an affected male who had all daughters affected and all sons unaffected. </p><p>Up to the end of 1954, Evans et al. (1966) found 47 reported cases of cylindroma, of which 30 were female. The authors noted that the term cylindroma had also been applied by Billroth (1859) to a type of adenocarcinoma arising in salivary gland tissue. </p><p>Hart (1973) suggested that the lesions of hereditary multiple benign cystic epithelioma could be discerned in ancient Parthian coins. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ancell, H.
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<strong>History of a remarkable case of tumours developed on the head and face; accompanied with a similar disease in the abdomen.</strong>
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Med. Chir. Trans. 25: 227-246, 1842.
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[PubMed: 20895749]
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[Full Text: https://doi.org/10.1177/095952874202500116]
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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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Baden, H. P.
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<strong>Cylindromatosis simulating neurofibromatosis.</strong>
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New Eng. J. Med. 267: 296-297, 1962.
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[PubMed: 13863824]
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[Full Text: https://doi.org/10.1056/NEJM196208092670608]
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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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Biggs, P. J., Chapman, P., Lakhani, S. R., Burn, J., Stratton, M. R.
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<strong>The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas.</strong>
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Oncogene 12: 1375-1377, 1996.
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[PubMed: 8649842]
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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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Biggs, P. J., Wooster, R., Ford, D., Chapman, P., Mangion, J., Quirk, Y., Easton, D. F., Burn, J., Stratton, M. R.
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<strong>Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.</strong>
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Nature Genet. 11: 441-443, 1995.
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[PubMed: 7493027]
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[Full Text: https://doi.org/10.1038/ng1295-441]
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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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Bignell, G. R., Warren, W., Seal, S., Takahashi, M., Rapley, E., Barfoot, R., Green, H., Brown, C., Biggs, P. J., Lakhani, S. R., Jones, C., Hansen, J., and 29 others.
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<strong>Identification of the familial cylindromatosis tumour-suppressor gene.</strong>
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Nature Genet. 25: 160-165, 2000.
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[PubMed: 10835629]
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[Full Text: https://doi.org/10.1038/76006]
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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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Billroth, T.
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<strong>Beobachtungen ueber Geschwuelste der Speicheldruesen.</strong>
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Virchows Arch. Path. Anat. 17: 357-375, 1859.
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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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Blake, P. W., Toro, J. R.
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<strong>Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.</strong>
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Hum. Mutat. 30: 1025-1036, 2009.
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[PubMed: 19462465]
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[Full Text: https://doi.org/10.1002/humu.21024]
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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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Blandy, J. P., Gammie, W. F. P., Stovin, P. G. I., Swettenham, K.
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<strong>Turban tumours in brother and sister.</strong>
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Brit. J. Surg. 49: 136-140, 1961.
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[PubMed: 13869820]
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[Full Text: https://doi.org/10.1002/bjs.18004921405]
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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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Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vazquez, M. E., Celebi, J. T., Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma.
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<strong>lack of genotype-phenotype correlation.</strong>
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J. Invest. Derm. 124: 919-920, 2005.
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[PubMed: 15854031]
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[Full Text: https://doi.org/10.1111/j.0022-202X.2005.23688.x]
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</li>
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<li>
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<p class="mim-text-font">
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Evans, J. C., Efskind, J., Roberts, T. W.
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<strong>Cylindroma.</strong>
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[Full Text: https://doi.org/10.2214/ajr.96.1.191]
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<strong>Familial cutaneous cylindromas: investigations in five generations of a family.</strong>
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<strong>Zur Nosologie der Spiegler-Brookeschen Tumoren.</strong>
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Dermatologica 122: 274-278, 1961.
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Harper, P. S.
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<strong>Turban tumors (cylindromatosis).</strong>
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Birth Defects Orig. Art. Ser. VII(8): 338-341, 1971.
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Hart, G. D.
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<strong>The diagnosis of disease from ancient coins.</strong>
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Archaeology 26: 123-127, 1973.
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Lee, D. A., Grossman, M. E., Schneiderman, P., Celebi, J. T.
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<strong>Genetics of skin appendage neoplasms and related syndromes.</strong>
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Poblete Gutierrez, P. P., Eggermann, T., Holler, D., Jugert, F. K., Beermann, T., Grussendorf-Conen, E.-I., Zerres, K., Merk, H. F., Frank, J.
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<strong>Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.</strong>
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Saggar, S., Chernoff, K. A., Lodha, S., Horev, L., Kohl, S., Honjo, R. S., Brandt, H. R. C., Hartmann, K., Celebi, J. T.
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Schmidt-Baumler, H.
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<strong>Familiares Cylindrome. Ein Beitrag zur Frage der geschlechtsbegrenzten Vererbung.</strong>
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Arch. Derm. Syph. 163: 114-125, 1931.
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<p class="mim-text-font">
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Spiegler, E.
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<strong>Ueber Endotheliome der Haut.</strong>
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Arch. Derm. Syph. 50: 163-176, 1899.
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Stoll, C., Alembik, Y., Wilk, A., Grosshans, E.
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<strong>Familial cylindromatosis.</strong>
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Genet. Counsel. 15: 175-182, 2004.
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[PubMed: 15287417]
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Takahashi, M., Rapley, E., Biggs, P. J., Lakhani, S. R., Cooke, D., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Evans, D. G., Schrander-Stumpel, C., and 17 others.
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<strong>Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.</strong>
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Hum. Genet. 106: 58-65, 2000.
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[PubMed: 10982183]
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<p class="mim-text-font">
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van Balkom, I. D. C., Hennekam, R. C. M.
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<strong>Dermal eccrine cylindromatosis.</strong>
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J. Med. Genet. 31: 321-324, 1994.
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[PubMed: 8071959]
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[Full Text: https://doi.org/10.1136/jmg.31.4.321]
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<p class="mim-text-font">
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Verhoef, S., Schrander-Stumpel, C. T. R. M., Vuzevski, V. D., Tempelaars, A., Jansen, L. A. J., Malfeyt, G. A. M., Ceelen, T. L., Lindhout, D., Halley, D. J. J., van den Ouweland, A. M. W.
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<strong>Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.</strong>
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J. Med. Genet. 35: 841-845, 1998.
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[PubMed: 9783709]
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<p class="mim-text-font">
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Vernon, H. J., Olsen, E. A., Vollmer, R. T.
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<strong>Autosomal dominant multiple cylindromas associated with solitary lung cylindroma.</strong>
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J. Am. Acad. Derm. 19: 397-400, 1988.
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[PubMed: 2842382]
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<p class="mim-text-font">
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Welch, J. P., Wells, R. S., Kerr, C. B.
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<strong>Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce trichoepitheliomas: evidence for a single genetic entity.</strong>
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J. Med. Genet. 5: 29-35, 1968.
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[PubMed: 5653864]
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[Full Text: https://doi.org/10.1136/jmg.5.1.29]
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Young, A. L., Kellermayer, R., Szigeti, R., Teszas, A., Azmi, S., Celebi, J. T.
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<strong>CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.</strong>
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Clin. Genet. 70: 246-249, 2006.
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[PubMed: 16922728]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00667.x]
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Cassandra L. Kniffin - updated : 11/10/2009<br>Cassandra L. Kniffin - reorganized : 6/17/2008<br>Cassandra L. Kniffin - updated : 6/16/2008<br>Victor A. McKusick - updated : 8/23/2004<br>Victor A. McKusick - updated : 2/29/2000<br>Michael J. Wright - updated : 11/9/1998
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