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<meta name="keywords" content="'turban tumor' syndrome, C1851526, ancell-spiegler cylindromas, ancell-spiegler syndrome, cyld, cylindromas, dermal eccrine, cylindromatosis, familial, dermal eccrine cylindroma, familial cylindromatosis, familial trichoepithelioma, pathologic function, turban tumor, turban tumor syndrome, turban tumors, turban tumour, turban tumour syndrome, turban tumours, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=343593
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ConceptID=C1851526
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-->
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<!--imgCountBooks = 5--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (5)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK555820/bin/cyld-cs-Image002.gif" src-large="/books/NBK555820/bin/cyld-cs-Image002.jpg" /></a><br /><a href="/books/NBK555820/figure/cyld-cs.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK555820/bin/cyld-cs-Image004.gif" src-large="/books/NBK555820/bin/cyld-cs-Image004.jpg" /></a><br /><a href="/books/NBK555820/figure/cyld-cs.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK555820/bin/cyld-cs-Image003.gif" src-large="/books/NBK555820/bin/cyld-cs-Image003.jpg" /></a><br /><a href="/books/NBK555820/figure/cyld-cs.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK555820/bin/cyld-cs-Image005.gif" src-large="/books/NBK555820/bin/cyld-cs-Image005.jpg" /></a><br /><a href="/books/NBK555820/figure/cyld-cs.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK555820/bin/cyld-cs-Image001.gif" src-large="/books/NBK555820/bin/cyld-cs-Image001.jpg" /></a><br /><a href="/books/NBK555820/figure/cyld-cs.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Familial cylindromatosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343593</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1851526</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ANCELL-SPIEGLER CYLINDROMAS; Turban tumor syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Turban tumor (211710004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CYLD - ID: 1540 - NCBI Gene" href="/gene/1540" class="medgenPMinfo">CYLD</a> (16q12.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007565" target="_blank">MONDO:0007565</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/132700" target="_blank">132700</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=211">ORPHA211</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK555820" target="_blank">CYLD Cutaneous Syndrome</a></div><div>CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Summary" target="NBK555820">Summary</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Diagnosis" target="NBK555820">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Clinical_Characteristics" target="NBK555820">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Genetically_Related_Allelic_Diso" target="NBK555820">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Differential_Diagnosis" target="NBK555820">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Management" target="NBK555820">Management</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Genetic_Counseling" target="NBK555820">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Resources" target="NBK555820">Resources</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Molecular_Genetics" target="NBK555820">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.References" target="NBK555820">References</a> | <a class="medgenPMinfo" href="/books/NBK555820#cyld-cs.Chapter_Notes" target="NBK555820">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Anna Dubois | Neil Rajan <a href="/books/NBK555820" target="NBK555820" title="NCBI Bookshelf: CYLD Cutaneous Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).
|
||
Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands.
|
||
Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. <a target="_blank" href="http://www.omim.org/entry/132700">http://www.omim.org/entry/132700</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_19993"><div><strong>Neoplasm of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19993</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19993">Feature record</a> | <a href="/medgen?term=%22Neoplasm%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2019993%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm of the skin</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851526[DISCUI]&test_type=Clinical" ref="ncbi_uid=343593">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343593" target="_blank" href="/omim/132700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK555820/" ref="ncbi_uid=343593">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343593" ref="ncbi_uid=343593">V</a></span></span><span class="TLline">Familial cylindromatosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842339" ref="tree=MeSH" title="MedGen record for Inherited skin tumor">Inherited skin tumor</a></span><ul><li><span class="TLline"><a href="/medgen/346703" ref="tree=MeSH" title="MedGen record for Brooke-Spiegler syndrome">Brooke-Spiegler syndrome</a></span><ul><li><span class="matched_ds">Familial cylindromatosis</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25782638">Phenotype-genotype correlations for clinical variants caused by CYLD mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagy N,
|
||
Farkas K,
|
||
Kemény L,
|
||
Széll M</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2015 May;58(5):271-8.
|
||
Epub 2015 Mar 14
|
||
doi: 10.1016/j.ejmg.2015.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25782638" target="_blank">25782638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15854031">Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowen S,
|
||
Gill M,
|
||
Lee DA,
|
||
Fisher G,
|
||
Geronemus RG,
|
||
Vazquez ME,
|
||
Celebi JT</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2005 May;124(5):919-20.
|
||
doi: 10.1111/j.0022-202X.2005.23688.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15854031" target="_blank">15854031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20cylindromatosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32975300">Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srikantharajah T,
|
||
Skovby F,
|
||
Behrendt N,
|
||
Jemec GBE,
|
||
Saunte DM</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Alp Pannonica Adriat</span>
|
||
2020 Sep;29(3):133-140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32975300" target="_blank">32975300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31085270">Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arefi M,
|
||
Wilson V,
|
||
Muthiah S,
|
||
Zwolinski S,
|
||
Bajwa D,
|
||
Brennan P,
|
||
Blasdale K,
|
||
Bourn D,
|
||
Burn J,
|
||
Santibanez-Koref M,
|
||
Rajan N</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2019 Dec;81(6):1300-1307.
|
||
Epub 2019 May 11
|
||
doi: 10.1016/j.jaad.2019.05.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31085270" target="_blank">31085270</a><a href="/pmc/articles/PMC6878220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29569226">Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown SM,
|
||
Arefi M,
|
||
Stones R,
|
||
Loo PS,
|
||
Barnard S,
|
||
Bloxham C,
|
||
Stefanos N,
|
||
Langtry JAA,
|
||
Worthy S,
|
||
Calonje E,
|
||
Husain A,
|
||
Rajan N</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2018 Sep;179(3):662-668.
|
||
Epub 2018 May 29
|
||
doi: 10.1111/bjd.16573.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29569226" target="_blank">29569226</a><a href="/pmc/articles/PMC6175122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189319">Ulcerating Tumor of the Scalp: Answer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tolkachjov SN,
|
||
Drage LA,
|
||
Gibson LE,
|
||
Camilleri MJ,
|
||
Wetter DA</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2017 Dec;39(12):943-944.
|
||
doi: 10.1097/DAD.0000000000000626.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189319" target="_blank">29189319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14585643">Small RNA: can RNA interference be exploited for therapy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wall NR,
|
||
Shi Y</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2003 Oct 25;362(9393):1401-3.
|
||
doi: 10.1016/S0140-6736(03)14637-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14585643" target="_blank">14585643</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cylindromatosis%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36987829">Brooke-Spiegler Syndrome with Parotid Gland Involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arandia JOA,
|
||
Magalhães TC,
|
||
Gomes de Sá GM,
|
||
Carneiro LH,
|
||
Ramos-E-Silva M</span><br />
|
||
<span class="medgenPMjournal">Skinmed</span>
|
||
2023;21(1):47-50.
|
||
Epub 2023 Mar 29
|
||
<span class="bold">PMID: </span><a href="/pubmed/36987829" target="_blank">36987829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31634508">Cylindroma spine metastasis: Long-term follow-up is required.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riche M,
|
||
Mathon B,
|
||
Mokhtari K,
|
||
Carpentier A,
|
||
Amelot A</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2020 Feb;66(1):45-49.
|
||
Epub 2019 Oct 18
|
||
doi: 10.1016/j.neuchi.2019.09.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31634508" target="_blank">31634508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30201149">Dermoscopy of Adnexal Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaballos P,
|
||
Gómez-Martín I,
|
||
Martin JM,
|
||
Bañuls J</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2018 Oct;36(4):397-412.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.det.2018.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30201149" target="_blank">30201149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29989874">Trichoepithelioma: A Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karimzadeh I,
|
||
Namazi MR,
|
||
Karimzadeh A</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2018 Jun;26(2):162-165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29989874" target="_blank">29989874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25515269">Cylindroma: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordão C,
|
||
de Magalhães TC,
|
||
Cuzzi T,
|
||
Ramos-e-Silva M</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2015 Mar;54(3):275-8.
|
||
Epub 2014 Dec 16
|
||
doi: 10.1111/ijd.12600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25515269" target="_blank">25515269</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cylindromatosis%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (58)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35654650">Laser-assisted delivery of imiquimod in Brooke-Spiegler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Botsali A,
|
||
Caliskan E</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2022 Jul-Aug;97(4):541-543.
|
||
Epub 2022 May 30
|
||
doi: 10.1016/j.abd.2020.12.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35654650" target="_blank">35654650</a><a href="/pmc/articles/PMC9263671" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653239">Effect of Topical Rapamycin 1% on Multiple Trichoepitheliomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreyfus I,
|
||
Onnis G,
|
||
Tournier E,
|
||
Dereure O,
|
||
Mazereeuw-Hautier J</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Apr 1;99(4):454-455.
|
||
doi: 10.2340/00015555-3116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653239" target="_blank">30653239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29934657">A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baur V,
|
||
Papadopoulos T,
|
||
Kazakov DV,
|
||
Agaimy A,
|
||
Hartmann A,
|
||
Isbary G,
|
||
Wirtz RM,
|
||
Schultz ES</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2018 Aug;473(2):241-246.
|
||
Epub 2018 Jun 22
|
||
doi: 10.1007/s00428-018-2397-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29934657" target="_blank">29934657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28133868">Use of topical sirolimus in the management of multiple familial trichoepitheliomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tu JH,
|
||
Teng JM</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2017 Mar;30(2)
|
||
Epub 2017 Jan 30
|
||
doi: 10.1111/dth.12458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28133868" target="_blank">28133868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28031139">Multiple Familial Trichoepithelioma Successfully Treated With CO(2) Laser and Imiquimod.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGee JS,
|
||
Suchter MF,
|
||
Milgraum SS</span><br />
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<span class="medgenPMjournal">Skinmed</span>
|
||
2016;14(6):467-468.
|
||
Epub 2016 Dec 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/28031139" target="_blank">28031139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cylindromatosis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33999445">TRAF3 and NBR1 both influence the effect of the disease-causing CYLD(Arg936X) mutation on NF-κB activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danis J,
|
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Kelemen E,
|
||
Rajan N,
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Nagy N,
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||
Széll M,
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Ádám É</span><br />
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<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2021 Nov;30(11):1705-1710.
|
||
Epub 2021 May 17
|
||
doi: 10.1111/exd.14365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33999445" target="_blank">33999445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32975300">Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srikantharajah T,
|
||
Skovby F,
|
||
Behrendt N,
|
||
Jemec GBE,
|
||
Saunte DM</span><br />
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<span class="medgenPMjournal">Acta Dermatovenerol Alp Pannonica Adriat</span>
|
||
2020 Sep;29(3):133-140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32975300" target="_blank">32975300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31085270">Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arefi M,
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Wilson V,
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Muthiah S,
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Zwolinski S,
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Bajwa D,
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Brennan P,
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Blasdale K,
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Burn J,
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
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||
2019 Dec;81(6):1300-1307.
|
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Epub 2019 May 11
|
||
doi: 10.1016/j.jaad.2019.05.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31085270" target="_blank">31085270</a><a href="/pmc/articles/PMC6878220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20972631">Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Ouweland AM,
|
||
Elfferich P,
|
||
Lamping R,
|
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van de Graaf R,
|
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van Veghel-Plandsoen MM,
|
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Franken SM,
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Houweling AC</span><br />
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<span class="medgenPMjournal">Fam Cancer</span>
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2011 Mar;10(1):127-32.
|
||
doi: 10.1007/s10689-010-9393-y.
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||
<span class="bold">PMID: </span><a href="/pubmed/20972631" target="_blank">20972631</a><a href="/pmc/articles/PMC3036809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21137639">Surgical management of cylindromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humphreys T</span><br />
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<span class="medgenPMjournal">Skinmed</span>
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||
2010 Sep-Oct;8(5):289-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21137639" target="_blank">21137639</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cylindromatosis%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32975300">Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srikantharajah T,
|
||
Skovby F,
|
||
Behrendt N,
|
||
Jemec GBE,
|
||
Saunte DM</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Alp Pannonica Adriat</span>
|
||
2020 Sep;29(3):133-140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32975300" target="_blank">32975300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30201149">Dermoscopy of Adnexal Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaballos P,
|
||
Gómez-Martín I,
|
||
Martin JM,
|
||
Bañuls J</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2018 Oct;36(4):397-412.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.det.2018.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30201149" target="_blank">30201149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28976013">Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cüre K,
|
||
Kocatürk E,
|
||
Koku Aksu AE,
|
||
Yüksel T,
|
||
Leblebici C,
|
||
Özekinci S,
|
||
Özkaya Ö,
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||
Değirmentepe E</span><br />
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||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2017 Dec;42(8):906-909.
|
||
Epub 2017 Oct 4
|
||
doi: 10.1111/ced.13223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28976013" target="_blank">28976013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27372382">Cylindromatosis (Cyld) gene mutation in T cells promotes the development of an IL-9-dependent allergic phenotype in experimental asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reuter S,
|
||
Maxeiner J,
|
||
Meyer-Martin H,
|
||
Michel A,
|
||
Baars P,
|
||
Bopp T,
|
||
Waisman A,
|
||
Reissig S,
|
||
Wehler TC,
|
||
Schild H,
|
||
Taube C,
|
||
Stassen M,
|
||
Becker M</span><br />
|
||
<span class="medgenPMjournal">Cell Immunol</span>
|
||
2016 Oct;308:27-34.
|
||
Epub 2016 Jun 25
|
||
doi: 10.1016/j.cellimm.2016.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27372382" target="_blank">27372382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25782638">Phenotype-genotype correlations for clinical variants caused by CYLD mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagy N,
|
||
Farkas K,
|
||
Kemény L,
|
||
Széll M</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2015 May;58(5):271-8.
|
||
Epub 2015 Mar 14
|
||
doi: 10.1016/j.ejmg.2015.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25782638" target="_blank">25782638</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cylindromatosis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/23260808">Cylindroma of head and neck: review of the literature and report of two rare cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh DD,
|
||
Naujoks C,
|
||
Depprich R,
|
||
Schulte KW,
|
||
Jankowiak F,
|
||
Kübler NR,
|
||
Handschel J</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2013 Sep;41(6):516-21.
|
||
Epub 2012 Dec 21
|
||
doi: 10.1016/j.jcms.2012.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23260808" target="_blank">23260808</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cylindromatosis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<div class=" bottom">
|
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|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1851526%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851526%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851526%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1851526%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=132700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=211" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20cylindromatosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20cylindromatosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Familial%20cylindromatosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605018" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1540[geneid]" target="_blank">View CYLD variations in ClinVar</a></li><li><a href="/nuccore/237820676" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=132700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cylindromatosis_familial" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20cylindromatosis" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9707/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/32298062" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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<li>
|
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<a href="/pubmed/clinical?term=Familial%20cylindromatosis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Familial%20cylindromatosis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
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|
||
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=343593" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=343593" ref="log$=recordlinks">MeSH</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4fecf4a390645e301c23">Familial cylindromatosis</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb4feb84f3725e592bd583">C1851526[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb4feaf4a390645e3010d0">C2673198[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(117)</span></a>
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<div class="ralinkpop offscreen_noflow">C2673198[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb4fe9a68b6b5afc67464c">C4551895[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(88)</span></a>
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<div class="ralinkpop offscreen_noflow">C4551895[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb4fe884f3725e592bc632">Familial cold autoinflammatory syndrome 1</a>
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<div class="ralinkpop offscreen_noflow">Familial cold autoinflammatory syndrome 1<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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