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Entry
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- #605041 - BROOKE-SPIEGLER SYNDROME; BRSS
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- OMIM
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<p>
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<span class="h4">#605041</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/605041"><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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<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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</a>
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</span>
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</span>
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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=BROOKE-SPIEGLER SYNDROME" 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11519&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.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.diseaseinfosearch.org/x/6719" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605041[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79493" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050693" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/605041" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050693" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<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> 703531009<br />
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<strong>ORPHA:</strong> 79493<br />
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<strong>DO:</strong> 0050693<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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605041
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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BROOKE-SPIEGLER SYNDROME; BRSS
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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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BSS<br />
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SPIEGLER-BROOKE SYNDROME; SBS
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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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Brooke-Spiegler syndrome
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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/605041"> 605041 </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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<a href="/clinicalSynopsis/605041" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<span class="sr-only">Toggle Dropdown</span>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/605041" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605041" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<span class="h5 mim-font">
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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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<span class="h5 mim-font">
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<em> Skin </em>
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- Cylindromas, multiple (usually occur on the scalp, but may also occur on the face, trunk, and extremities) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676632</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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Trichoepitheliomas, multiple (usually occur in the nasolabial folds, nose, or face) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676633</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277942005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274898000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274898000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/878881002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">878881002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59186007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59186007</a>]</span><br /> -
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Spiradenomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403938001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403938001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4977000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4977000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2718092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2718092</a>, <a href="https://bioportal.bioontology.org/search?q=C0334347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0334347</a>]</span><br /> -
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Milia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37719003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37719003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254679001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254679001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001056" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001056</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Skin appendage tumors may show malignant transformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676630</a>]</span><br /> -
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Parotid gland adenoma and adenocarcinoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676631</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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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 familial cylindromatosis (FC, <a href="/entry/132700">132700</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the CYLD gene (<a href="/entry/605018#0003">605018.0003</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</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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<p>A number sign (#) is used with this entry because Brooke-Spiegler syndrome (BRSS) is caused by heterozygous mutation in the CYLD gene (<a href="/entry/605018">605018</a>) on chromosome 16q12.</p><p>Allelic disorders include familial cylindromatosis (<a href="/entry/132700">132700</a>) and multiple familial trichoepithelioma-1 (MFT1; <a href="/entry/601606">601606</a>), which show overlapping phenotypes.</p>
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<strong>Description</strong>
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<p>Brooke-Spiegler syndrome (BRSS) is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (<a href="#16" class="mim-tip-reference" title="Scheinfeld, N., Hu, G., Gill, M., Austin, C., Celebi, J. T. <strong>Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.</strong> Clin. Exp. Derm. 28: 539-541, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12950348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12950348</a>] [<a href="https://doi.org/10.1046/j.1365-2230.2003.01344.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12950348">Scheinfeld et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12950348" 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>Because BRSS, familial cylindromatosis, and MFT1 are allelic, 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="#6" 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="#9" 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="#3" class="mim-tip-reference" title="Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vasquez, M. E., Celebi, J. T. <strong>Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: 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="#22" 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="#15" 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+16272260+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="#2" 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 review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. <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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<p><a href="#19" class="mim-tip-reference" title="Schuermann, H., Weber, K. <strong>Beitrag zur Kenntnis der Spieglerschen Tumoren (Cylindrome) nebst einigen Bemerkungen zum Epithelioma adenoides cysticum.</strong> Arch. Derm. Syph. 175: 682-695, 1937."None>Schuermann and Weber (1937)</a> presented a pedigree with cylindromas and trichoepitheliomas affecting 9 persons in 4 generations. Six of the 9 were female. Although no male-to-male transmission was noted, 2 daughters of an affected male were affected.</p><p><a href="#1" class="mim-tip-reference" title="Autio-Harmainen, H., Paakko, P., Alavaikko, M., Karvonen, J., Leisti, J. <strong>Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma.</strong> Cancer 61: 161-166, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275484</a>] [<a href="https://doi.org/10.1002/1097-0142(19880101)61:1<161::aid-cncr2820610127>3.0.co;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275484">Autio-Harmainen et al. (1988)</a> described a Finnish kindred in which many members had dominantly inherited trichoepithelioma and cylindromas. At least 4 generations and 7 sibships were affected, particularly with facial trichoepithelioma, and at least 4 members of the family were reported to have scalp cylindromas. One patient had eccrine spiradenoma, including painful spiradenomas on the upper chest, implying Brooke-Spiegler syndrome. In addition, an affected mother and daughter developed a malignant lymphoepithelial lesion of the parotid gland. <a href="#1" class="mim-tip-reference" title="Autio-Harmainen, H., Paakko, P., Alavaikko, M., Karvonen, J., Leisti, J. <strong>Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma.</strong> Cancer 61: 161-166, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275484</a>] [<a href="https://doi.org/10.1002/1097-0142(19880101)61:1<161::aid-cncr2820610127>3.0.co;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275484">Autio-Harmainen et al. (1988)</a> noted that salivary gland lymphoepithelial lesions had been reported predominantly in the Mongoloid race, with a preponderance of Canadian and Greenland Eskimos and Chinese. Familial occurrence has been noted among the Eskimos (<a href="#11" class="mim-tip-reference" title="Merrick, Y., Albeck, H., Nielsen, N. H., Hansen, H. S. <strong>Familial clustering of salivary gland carcinoma in Greenland.</strong> Cancer 57: 2097-2102, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3955517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3955517</a>] [<a href="https://doi.org/10.1002/1097-0142(19860515)57:10<2097::aid-cncr2820571035>3.0.co;2-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3955517">Merrick et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3275484+3955517" 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="#18" class="mim-tip-reference" title="Schramm, M., Blume-Peytavi, U., Kruger, K., Gollnick, H. <strong>A rare association of multiple hereditary trichoepitheliomas with multiple spiradenomas.</strong> Europ. J. Derm. 6: 259-261, 1996."None>Schramm et al. (1996)</a> reported a 49-year-old woman and her 20-year-old daughter with multiple papular and nodular lesions on the face and scalp, showing the typical clinical and histopathologic features of trichoepithelioma. In addition, the mother developed multiple, blue-colored and painful lesions on her breast and back, showing the histopathologic characteristics of eccrine spiradenomas. The trichoepitheliomas and spiradenomas were found in close proximity in a tissue specimen.</p><p><a href="#21" class="mim-tip-reference" title="Weyers, W., Nilles, M., Eckert, F., Schill, W. B. <strong>Spiradenomas in Brooke-Spiegler syndrome.</strong> Am. J. Dermatopath. 15: 156-161, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7684205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7684205</a>] [<a href="https://doi.org/10.1097/00000372-199304000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7684205">Weyers et al. (1993)</a> reported a patient with Brooke-Spiegler syndrome in whom spiradenomas were found in the immediate vicinity of trichoepitheliomas and in continuity with follicles. Because of the embryonic relationship between follicles and apocrine glands, these features suggested that spiradenomas are apocrine neoplasms. <a href="#21" class="mim-tip-reference" title="Weyers, W., Nilles, M., Eckert, F., Schill, W. B. <strong>Spiradenomas in Brooke-Spiegler syndrome.</strong> Am. J. Dermatopath. 15: 156-161, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7684205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7684205</a>] [<a href="https://doi.org/10.1097/00000372-199304000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7684205">Weyers et al. (1993)</a> noted that basal cell carcinoma and cylindromas have also been observed in BRSS. <a href="#17" class="mim-tip-reference" title="Schirren, C. G., Worle, B., Kind, P., Plewig, G. J. <strong>A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome: an immunohistochemical study with cytokeratins.</strong> J. Cutan. Path. 22: 563-569, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8835176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8835176</a>] [<a href="https://doi.org/10.1111/j.1600-0560.1995.tb01152.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8835176">Schirren et al. (1995)</a> identified both cylindroma and trichoepithelioma in a single nevoid plaque from a patient with Brooke-Spiegler syndrome. Mixed differentiation in tumor specimens from 2 individuals from the same family had also been found (<a href="#14" class="mim-tip-reference" title="Puig, L., Nadal, C., Fernandez-Figueras, M. T., Alegre, M., de Moragas, J. M. <strong>Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations.</strong> Am. J. Dermatopath. 20: 56-60, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9504671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9504671</a>] [<a href="https://doi.org/10.1097/00000372-199802000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9504671">Puig et al., 1998</a>). These findings suggested a defect in the stem cells of the folliculosebaceous-apocrine unit (FSAU), where mutations in genes regulating proliferation and differentiation of the putative stem cells would give rise to different combinations of adnexal skin tumors as well as to other neoplasms (<a href="#5" class="mim-tip-reference" title="Fenske, C., Banerjee, P., Holden, C., Carter, N. <strong>Brooke-Spiegler syndrome locus assigned to 16q12-q13.</strong> J. Invest. Derm. 114: 1057-1058, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792569</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00960.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10792569">Fenske et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10792569+8835176+9504671+7684205" 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="Scheinfeld, N., Hu, G., Gill, M., Austin, C., Celebi, J. T. <strong>Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.</strong> Clin. Exp. Derm. 28: 539-541, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12950348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12950348</a>] [<a href="https://doi.org/10.1046/j.1365-2230.2003.01344.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12950348">Scheinfeld et al. (2003)</a> reported a family with BRSS. The proband was a 67-year-old man who presented with multiple disfiguring facial papules and scalp nodules. The lesions began in his late teenage years. Physical examination showed numerous flesh-colored, pink, and bluish 0.5- to 2.0-cm papules and nodules on the face, ears, and scalp. Histologic examination of at least 21 lesions showed predominantly cylindromas and spiradenomas, but also included epidermoid inclusion cysts, and basal cell carcinoma. Palmar pits were also observed. The patient's sister and father had a similar phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12950348" 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="Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vasquez, M. E., Celebi, J. T. <strong>Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: 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> reported 3 unrelated women with BRSS confirmed by genetic analysis (see, e.g., <a href="/entry/605018#0008">605018.0008</a>). One patient had cylindroma and trichoepithelioma, another had cylindroma, trichoepithelioma, and spiradenoma, and the third had cylindroma, spiradenoma, and bilateral basal cell adenocarcinomas of the parotid gland. <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'})"><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="#12" class="mim-tip-reference" title="Nasti, S., Pastorino, L., Bruno, W., Gargiulo, S., Battistuzzi, L., Zavattaro, E., Leigheb, G., De Francesco, V., Tulli, A., Mari, F., Biancheri Scarra, G., Ghiorzo, P. <strong>Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. (Letter)</strong> Clin. Genet. 76: 481-485, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19807742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19807742</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01259.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19807742">Nasti et al. (2009)</a> reported an Italian mother and son with variable manifestations of Brooke-Spiegler syndrome. The 79-year-old mother began developing skin lesions at age 16. She had severe scalp involvement. Most were cylindromas, some with combined features of cylindroma and spiradenoma, and many smaller nodules were trichoepitheliomas. She also had a cutaneous carcinosarcoma on the trunk. Her 54-year-old son had 7 cylindromas and 6 basal cell carcinomas. Both patients carried a heterozygous truncating mutation in the CYLD gene (<a href="/entry/605018#0010">605018.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19807742" 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="#7" 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> found that 132 of 212 reported cases of BRSS were in females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13709529" 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>One pedigree with at least 9 affected persons and at least 1 instance of male-to-male transmission had been observed, consistent with autosomal dominant inheritance (<a href="#10" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1971."None>McKusick, 1971</a>).</p>
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<p>In a family with Brooke-Spiegler syndrome, <a href="#5" class="mim-tip-reference" title="Fenske, C., Banerjee, P., Holden, C., Carter, N. <strong>Brooke-Spiegler syndrome locus assigned to 16q12-q13.</strong> J. Invest. Derm. 114: 1057-1058, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792569</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00960.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10792569">Fenske et al. (2000)</a> found evidence for linkage to chromosome 16q12-q13 with a positive lod score of 1.2 by multipoint linkage analysis. They also demonstrated loss of heterozygosity for markers within this region in 2 tumors from this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10792569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a German family with cylindromas, including 1 patient who also had trichoepitheliomas, suggesting BRSS, <a href="#13" 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>In a man with Brooke-Spiegler syndrome, <a href="#16" class="mim-tip-reference" title="Scheinfeld, N., Hu, G., Gill, M., Austin, C., Celebi, J. T. <strong>Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.</strong> Clin. Exp. Derm. 28: 539-541, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12950348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12950348</a>] [<a href="https://doi.org/10.1046/j.1365-2230.2003.01344.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12950348">Scheinfeld et al. (2003)</a> identified a heterozygous mutation in the CYLD gene (<a href="/entry/605018#0004">605018.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12950348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hu, G., Onder, M., Gill, M., Aksakal, B., Oztas, M., Gurer, M. A., Celebi, J. T. <strong>A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.</strong> J. Invest. Derm. 121: 732-734, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14632188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14632188</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2003.12514.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14632188">Hu et al. (2003)</a> identified a heterozygous mutation in the CYLD1 gene (<a href="/entry/605018#0007">605018.0007</a>) in a patient with cylindromas on the scalp. However, his affected family members, who carried the same mutation, all had multiple trichoepitheliomas without cylindromas. Since both features were present in this family, the diagnosis was consistent with Brooke-Spiegler syndrome. The findings suggested that MFT1 and BRSS may be variable manifestations of a single disease entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14632188" 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="#15" 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="#15" 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="#21" class="mim-tip-reference" title="Weyers, W., Nilles, M., Eckert, F., Schill, W. B. <strong>Spiradenomas in Brooke-Spiegler syndrome.</strong> Am. J. Dermatopath. 15: 156-161, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7684205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7684205</a>] [<a href="https://doi.org/10.1097/00000372-199304000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7684205">Weyers et al. (1993)</a> noted that Brooke-Spiegler syndrome is named eponymically after the 2 physicians who first reported these neoplasms, Henry G. Brooke and Eduard Spiegler. <a href="#4" class="mim-tip-reference" title="Brooke, H. G. <strong>Epithelioma adenoides cysticum.</strong> Brit. J. Derm. 4: 269-287, 1892."None>Brooke (1892)</a> reported on trichoepitheliomas under the designation 'epithelioma adenoides cysticum,' and <a href="#20" class="mim-tip-reference" title="Spiegler, E. <strong>Ueber Endotheliome der Haut.</strong> Arch. Derm. Syph. 50: 163-176, 1899."None>Spiegler (1899)</a> gave the first precise description of the clinical and histopathologic features of cylindromas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7684205" 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 href="https://doi.org/10.1002/1097-0142(19880101)61:1<161::aid-cncr2820610127>3.0.co;2-1" target="_blank">Full Text</a>]
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Blake, P. W., Toro, J. R.
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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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Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vasquez, M. E., Celebi, J. T.
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<strong>Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: 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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Brooke, H. G.
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<strong>Epithelioma adenoides cysticum.</strong>
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Brit. J. Derm. 4: 269-287, 1892.
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Fenske, C., Banerjee, P., Holden, C., Carter, N.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10792569" 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.1523-1747.2000.00960.x" target="_blank">Full Text</a>]
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Gerretsen, A. L., Beemer, F. A., Deenstra, W., Hennekam, F. A. M., van Vloten, W. A.
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<strong>Familial cutaneous cylindromas: investigations in five generations of a family.</strong>
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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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Guggenheim, W., Schnyder, U. W.
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<strong>Zur Nosologie der Spiegler-Brookeschen Tumoren.</strong>
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[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>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13709529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hu, G., Onder, M., Gill, M., Aksakal, B., Oztas, M., Gurer, M. A., Celebi, J. T.
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<strong>A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.</strong>
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J. Invest. Derm. 121: 732-734, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14632188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14632188</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14632188" 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.1523-1747.2003.12514.x" target="_blank">Full Text</a>]
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Lee, D. A., Grossman, M. E., Schneiderman, P., Celebi, J. T.
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[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16272260" 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.2004.025577" target="_blank">Full Text</a>]
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1971.
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Merrick, Y., Albeck, H., Nielsen, N. H., Hansen, H. S.
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<strong>Familial clustering of salivary gland carcinoma in Greenland.</strong>
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Cancer 57: 2097-2102, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3955517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3955517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3955517" 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/10.1002/1097-0142(19860515)57:10<2097::aid-cncr2820571035>3.0.co;2-l" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Nasti2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nasti, S., Pastorino, L., Bruno, W., Gargiulo, S., Battistuzzi, L., Zavattaro, E., Leigheb, G., De Francesco, V., Tulli, A., Mari, F., Biancheri Scarra, G., Ghiorzo, P.
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<strong>Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. (Letter)</strong>
|
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Clin. Genet. 76: 481-485, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19807742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19807742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19807742" 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.1399-0004.2009.01259.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></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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J. Invest. Derm. 119: 527-531, 2002.
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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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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Puig1998" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
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Puig, L., Nadal, C., Fernandez-Figueras, M. T., Alegre, M., de Moragas, J. M.
|
|
<strong>Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations.</strong>
|
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Am. J. Dermatopath. 20: 56-60, 1998.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9504671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9504671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9504671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00000372-199802000-00011" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Saggar2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>CYLD mutations in familial skin appendage tumours. (Letter)</strong>
|
|
J. Med. Genet. 45: 298-302, 2008.
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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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</p>
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</div>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Scheinfeld2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scheinfeld, N., Hu, G., Gill, M., Austin, C., Celebi, J. T.
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<strong>Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.</strong>
|
|
Clin. Exp. Derm. 28: 539-541, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12950348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12950348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12950348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2230.2003.01344.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Schirren1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schirren, C. G., Worle, B., Kind, P., Plewig, G. J.
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<strong>A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome: an immunohistochemical study with cytokeratins.</strong>
|
|
J. Cutan. Path. 22: 563-569, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8835176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8835176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8835176" 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.1600-0560.1995.tb01152.x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Schramm1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schramm, M., Blume-Peytavi, U., Kruger, K., Gollnick, H.
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<strong>A rare association of multiple hereditary trichoepitheliomas with multiple spiradenomas.</strong>
|
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Europ. J. Derm. 6: 259-261, 1996.
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Schuermann1937" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuermann, H., Weber, K.
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<strong>Beitrag zur Kenntnis der Spieglerschen Tumoren (Cylindrome) nebst einigen Bemerkungen zum Epithelioma adenoides cysticum.</strong>
|
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Arch. Derm. Syph. 175: 682-695, 1937.
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</p>
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<a id="20" class="mim-anchor"></a>
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<a id="Spiegler1899" class="mim-anchor"></a>
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<div class="">
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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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</p>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Weyers1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weyers, W., Nilles, M., Eckert, F., Schill, W. B.
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<strong>Spiradenomas in Brooke-Spiegler syndrome.</strong>
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Am. J. Dermatopath. 15: 156-161, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7684205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7684205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7684205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00000372-199304000-00010" target="_blank">Full Text</a>]
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Young2006" class="mim-anchor"></a>
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<div class="">
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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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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/21/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/10/2009<br>Cassandra L. Kniffin - reorganized : 6/17/2008<br>Cassandra L. Kniffin - updated : 6/16/2008
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Gary A. Bellus : 6/9/2000
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/09/2024
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/21/2017<br>carol : 06/16/2016<br>carol : 7/26/2011<br>wwang : 1/26/2010<br>terry : 1/20/2010<br>ckniffin : 12/21/2009<br>wwang : 12/3/2009<br>ckniffin : 11/10/2009<br>carol : 6/17/2008<br>carol : 6/17/2008<br>carol : 6/17/2008<br>ckniffin : 6/16/2008<br>mgross : 3/17/2004<br>alopez : 6/12/2000<br>alopez : 6/12/2000<br>alopez : 6/12/2000<br>alopez : 6/12/2000<br>alopez : 6/12/2000
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 605041
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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BROOKE-SPIEGLER SYNDROME; BRSS
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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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<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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BSS<br />
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SPIEGLER-BROOKE SYNDROME; SBS
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 703531009;
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<strong>ORPHA:</strong> 79493;
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<strong>DO:</strong> 0050693;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
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">
|
|
16q12.1
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Brooke-Spiegler syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
605041
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
CYLD
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
605018
|
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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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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Brooke-Spiegler syndrome (BRSS) is caused by heterozygous mutation in the CYLD gene (605018) on chromosome 16q12.</p><p>Allelic disorders include familial cylindromatosis (132700) and multiple familial trichoepithelioma-1 (MFT1; 601606), which show overlapping phenotypes.</p>
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<strong>Description</strong>
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<p>Brooke-Spiegler syndrome (BRSS) is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003). </p><p>Because BRSS, familial cylindromatosis, and MFT1 are allelic, 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 (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). </p><p>Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. </p>
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<strong>Clinical Features</strong>
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<p>Schuermann and Weber (1937) presented a pedigree with cylindromas and trichoepitheliomas affecting 9 persons in 4 generations. Six of the 9 were female. Although no male-to-male transmission was noted, 2 daughters of an affected male were affected.</p><p>Autio-Harmainen et al. (1988) described a Finnish kindred in which many members had dominantly inherited trichoepithelioma and cylindromas. At least 4 generations and 7 sibships were affected, particularly with facial trichoepithelioma, and at least 4 members of the family were reported to have scalp cylindromas. One patient had eccrine spiradenoma, including painful spiradenomas on the upper chest, implying Brooke-Spiegler syndrome. In addition, an affected mother and daughter developed a malignant lymphoepithelial lesion of the parotid gland. Autio-Harmainen et al. (1988) noted that salivary gland lymphoepithelial lesions had been reported predominantly in the Mongoloid race, with a preponderance of Canadian and Greenland Eskimos and Chinese. Familial occurrence has been noted among the Eskimos (Merrick et al., 1986). </p><p>Schramm et al. (1996) reported a 49-year-old woman and her 20-year-old daughter with multiple papular and nodular lesions on the face and scalp, showing the typical clinical and histopathologic features of trichoepithelioma. In addition, the mother developed multiple, blue-colored and painful lesions on her breast and back, showing the histopathologic characteristics of eccrine spiradenomas. The trichoepitheliomas and spiradenomas were found in close proximity in a tissue specimen.</p><p>Weyers et al. (1993) reported a patient with Brooke-Spiegler syndrome in whom spiradenomas were found in the immediate vicinity of trichoepitheliomas and in continuity with follicles. Because of the embryonic relationship between follicles and apocrine glands, these features suggested that spiradenomas are apocrine neoplasms. Weyers et al. (1993) noted that basal cell carcinoma and cylindromas have also been observed in BRSS. Schirren et al. (1995) identified both cylindroma and trichoepithelioma in a single nevoid plaque from a patient with Brooke-Spiegler syndrome. Mixed differentiation in tumor specimens from 2 individuals from the same family had also been found (Puig et al., 1998). These findings suggested a defect in the stem cells of the folliculosebaceous-apocrine unit (FSAU), where mutations in genes regulating proliferation and differentiation of the putative stem cells would give rise to different combinations of adnexal skin tumors as well as to other neoplasms (Fenske et al., 2000). </p><p>Scheinfeld et al. (2003) reported a family with BRSS. The proband was a 67-year-old man who presented with multiple disfiguring facial papules and scalp nodules. The lesions began in his late teenage years. Physical examination showed numerous flesh-colored, pink, and bluish 0.5- to 2.0-cm papules and nodules on the face, ears, and scalp. Histologic examination of at least 21 lesions showed predominantly cylindromas and spiradenomas, but also included epidermoid inclusion cysts, and basal cell carcinoma. Palmar pits were also observed. The patient's sister and father had a similar phenotype. </p><p>Bowen et al. (2005) reported 3 unrelated women with BRSS confirmed by genetic analysis (see, e.g., 605018.0008). One patient had cylindroma and trichoepithelioma, another had cylindroma, trichoepithelioma, and spiradenoma, and the third had cylindroma, spiradenoma, and bilateral basal cell adenocarcinomas of the parotid gland. </p><p>Nasti et al. (2009) reported an Italian mother and son with variable manifestations of Brooke-Spiegler syndrome. The 79-year-old mother began developing skin lesions at age 16. She had severe scalp involvement. Most were cylindromas, some with combined features of cylindroma and spiradenoma, and many smaller nodules were trichoepitheliomas. She also had a cutaneous carcinosarcoma on the trunk. Her 54-year-old son had 7 cylindromas and 6 basal cell carcinomas. Both patients carried a heterozygous truncating mutation in the CYLD gene (605018.0010). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<p>Guggenheim and Schnyder (1961) found that 132 of 212 reported cases of BRSS were in females. </p><p>One pedigree with at least 9 affected persons and at least 1 instance of male-to-male transmission had been observed, consistent with autosomal dominant inheritance (McKusick, 1971).</p>
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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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<p>In a family with Brooke-Spiegler syndrome, Fenske et al. (2000) found evidence for linkage to chromosome 16q12-q13 with a positive lod score of 1.2 by multipoint linkage analysis. They also demonstrated loss of heterozygosity for markers within this region in 2 tumors from this family. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<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>In a man with Brooke-Spiegler syndrome, Scheinfeld et al. (2003) identified a heterozygous mutation in the CYLD gene (605018.0004). </p><p>Hu et al. (2003) identified a heterozygous mutation in the CYLD1 gene (605018.0007) in a patient with cylindromas on the scalp. However, his affected family members, who carried the same mutation, all had multiple trichoepitheliomas without cylindromas. Since both features were present in this family, the diagnosis was consistent with Brooke-Spiegler syndrome. The findings suggested that MFT1 and BRSS may be variable manifestations of a single disease entity. </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>Weyers et al. (1993) noted that Brooke-Spiegler syndrome is named eponymically after the 2 physicians who first reported these neoplasms, Henry G. Brooke and Eduard Spiegler. Brooke (1892) reported on trichoepitheliomas under the designation 'epithelioma adenoides cysticum,' and Spiegler (1899) gave the first precise description of the clinical and histopathologic features of cylindromas. </p>
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</span>
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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>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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Autio-Harmainen, H., Paakko, P., Alavaikko, M., Karvonen, J., Leisti, J.
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<strong>Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma.</strong>
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Cancer 61: 161-166, 1988.
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[PubMed: 3275484]
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[Full Text: https://doi.org/10.1002/1097-0142(19880101)61:1<161::aid-cncr2820610127>3.0.co;2-1]
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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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<p class="mim-text-font">
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Bowen, S., Gill, M., Lee, D. A., Fisher, G., Geronemus, R. G., Vasquez, M. E., Celebi, J. T.
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<strong>Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.</strong>
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J. Invest. Derm. 124: 919-920, 2005.
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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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Brooke, H. G.
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<strong>Epithelioma adenoides cysticum.</strong>
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Brit. J. Derm. 4: 269-287, 1892.
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</p>
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</li>
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<p class="mim-text-font">
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Fenske, C., Banerjee, P., Holden, C., Carter, N.
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<strong>Brooke-Spiegler syndrome locus assigned to 16q12-q13.</strong>
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J. Invest. Derm. 114: 1057-1058, 2000.
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[PubMed: 10792569]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2000.00960.x]
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Gerretsen, A. L., Beemer, F. A., Deenstra, W., Hennekam, F. A. M., van Vloten, W. A.
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<strong>Familial cutaneous cylindromas: investigations in five generations of a family.</strong>
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J. Am. Acad. Derm. 33: 199-206, 1995.
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Guggenheim, W., Schnyder, U. W.
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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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[PubMed: 13709529]
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Hu, G., Onder, M., Gill, M., Aksakal, B., Oztas, M., Gurer, M. A., Celebi, J. T.
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<strong>A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.</strong>
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J. Invest. Derm. 121: 732-734, 2003.
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[PubMed: 14632188]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2003.12514.x]
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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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J. Med. Genet. 42: 811-819, 2005.
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[PubMed: 16272260]
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[Full Text: https://doi.org/10.1136/jmg.2004.025577]
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1971.
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<p class="mim-text-font">
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Merrick, Y., Albeck, H., Nielsen, N. H., Hansen, H. S.
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<strong>Familial clustering of salivary gland carcinoma in Greenland.</strong>
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Cancer 57: 2097-2102, 1986.
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[PubMed: 3955517]
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[Full Text: https://doi.org/10.1002/1097-0142(19860515)57:10<2097::aid-cncr2820571035>3.0.co;2-l]
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<p class="mim-text-font">
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Nasti, S., Pastorino, L., Bruno, W., Gargiulo, S., Battistuzzi, L., Zavattaro, E., Leigheb, G., De Francesco, V., Tulli, A., Mari, F., Biancheri Scarra, G., Ghiorzo, P.
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<strong>Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. (Letter)</strong>
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Clin. Genet. 76: 481-485, 2009.
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[PubMed: 19807742]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01259.x]
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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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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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J. Invest. Derm. 119: 527-531, 2002.
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[PubMed: 12190880]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2002.01839.x]
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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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Puig, L., Nadal, C., Fernandez-Figueras, M. T., Alegre, M., de Moragas, J. M.
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<strong>Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations.</strong>
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Am. J. Dermatopath. 20: 56-60, 1998.
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[PubMed: 9504671]
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[Full Text: https://doi.org/10.1097/00000372-199802000-00011]
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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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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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<strong>CYLD mutations in familial skin appendage tumours. (Letter)</strong>
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J. Med. Genet. 45: 298-302, 2008.
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[PubMed: 18234730]
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[Full Text: https://doi.org/10.1136/jmg.2007.056127]
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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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Scheinfeld, N., Hu, G., Gill, M., Austin, C., Celebi, J. T.
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<strong>Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.</strong>
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Clin. Exp. Derm. 28: 539-541, 2003.
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[PubMed: 12950348]
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[Full Text: https://doi.org/10.1046/j.1365-2230.2003.01344.x]
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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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Schirren, C. G., Worle, B., Kind, P., Plewig, G. J.
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<strong>A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome: an immunohistochemical study with cytokeratins.</strong>
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J. Cutan. Path. 22: 563-569, 1995.
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[PubMed: 8835176]
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[Full Text: https://doi.org/10.1111/j.1600-0560.1995.tb01152.x]
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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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Schramm, M., Blume-Peytavi, U., Kruger, K., Gollnick, H.
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<strong>A rare association of multiple hereditary trichoepitheliomas with multiple spiradenomas.</strong>
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Europ. J. Derm. 6: 259-261, 1996.
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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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Schuermann, H., Weber, K.
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<strong>Beitrag zur Kenntnis der Spieglerschen Tumoren (Cylindrome) nebst einigen Bemerkungen zum Epithelioma adenoides cysticum.</strong>
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Arch. Derm. Syph. 175: 682-695, 1937.
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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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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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weyers, W., Nilles, M., Eckert, F., Schill, W. B.
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<strong>Spiradenomas in Brooke-Spiegler syndrome.</strong>
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Am. J. Dermatopath. 15: 156-161, 1993.
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[PubMed: 7684205]
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[Full Text: https://doi.org/10.1097/00000372-199304000-00010]
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</p>
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</li>
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<li>
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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 : 12/21/2009<br>Cassandra L. Kniffin - updated : 11/10/2009<br>Cassandra L. Kniffin - reorganized : 6/17/2008<br>Cassandra L. Kniffin - updated : 6/16/2008
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