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<meta name="keywords" content="C2677505, disease or syndrome, mft2, multiple familial trichoepithelioma, multiple familial trichoepithelioma 2, trichoepithelioma multiple familial 2, trichoepithelioma, multiple familial, 2, trichoepithelioma, multiple familial, type 2, 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="Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas. See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=394303
|
||
ConceptID=C2677505
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Trichoepithelioma, multiple familial, 2</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394303</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:">C2677505</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Multiple Familial Trichoepithelioma</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012800" target="_blank">MONDO:0012800</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612099" target="_blank">612099</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas. See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_118">
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<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1275122[DISCUI]&test_type=Clinical" ref="ncbi_uid=220890">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=220890" target="_blank" href="/omim/601606">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK555820/" ref="ncbi_uid=220890">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=220890" ref="ncbi_uid=220890">V</a></span></span><span class="TLline"><a href="/medgen/220890" ref="tree=GTR&ncbi_uid=220890&link_uid=220890" title="View MedGen record for 'Familial multiple trichoepitheliomata'">Familial multiple trichoepitheliomata</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN296585[DISCUI]&test_type=Clinical" ref="ncbi_uid=979606">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK555820/" ref="ncbi_uid=979606">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=979606" ref="ncbi_uid=979606">V</a></span></span><span class="TLline"><a href="/medgen/979606" ref="tree=GTR&ncbi_uid=979606&link_uid=979606" title="View MedGen record for 'Trichoepithelioma, multiple familial, 1'">Trichoepithelioma, multiple familial, 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394303" target="_blank" href="/omim/612099">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394303" ref="ncbi_uid=394303">V</a></span></span><span class="TLline">Trichoepithelioma, multiple familial, 2</span></li></ul></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="TLline"><a href="/medgen/220890" ref="tree=MeSH" title="MedGen record for Familial multiple trichoepitheliomata">Familial multiple trichoepitheliomata</a></span><ul><li><span class="matched_ds">Trichoepithelioma, multiple familial, 2</span></li></ul></li></ul></li></ul></li></ul></div></div></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_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/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/25230235">Expression and secretion of wild type and mutant GNE proteins in Dictyostelium discoideum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grover S,
|
||
Aslam S,
|
||
Sharma V,
|
||
Arya R</span><br />
|
||
<span class="medgenPMjournal">CNS Neurol Disord Drug Targets</span>
|
||
2014;13(7):1263-72.
|
||
doi: 10.2174/1871527313666140917094905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25230235" target="_blank">25230235</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23771219">Skull invaders: when surgical pathology and neuropathology worlds collide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serracino HS,
|
||
Kleinschmidt-Demasters BK</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
2013 Jul;72(7):600-13.
|
||
doi: 10.1097/NEN.0b013e318299c40f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23771219" target="_blank">23771219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22588548">A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kacerovska D,
|
||
Vanecek T,
|
||
Spagnolo DV,
|
||
Bisceglia M,
|
||
Zelger B,
|
||
Michal M,
|
||
Kazakov DV</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2013 Feb;35(1):19-24.
|
||
doi: 10.1097/DAD.0b013e318255dd37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22588548" target="_blank">22588548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16792771">An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oosterkamp HM,
|
||
Neering H,
|
||
Nijman SM,
|
||
Dirac AM,
|
||
Mooi WJ,
|
||
Bernards R,
|
||
Brummelkamp TR</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2006 Jul;155(1):182-5.
|
||
doi: 10.1111/j.1365-2133.2006.07224.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16792771" target="_blank">16792771</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichoepithelioma%2C%20multiple%20familial%2C%202%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/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/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 />
|
||
<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 class="nl"><a target="_blank" href="/pubmed/24438968">JAAD grand rounds quiz. Multiple papulonodules on the face and scalp.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SR,
|
||
Rees A,
|
||
Mir MR,
|
||
Rodriguez-Waitkins PM,
|
||
Hsu S</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2014 Feb;70(2):397-9.
|
||
doi: 10.1016/j.jaad.2012.09.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24438968" target="_blank">24438968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23426483">Numerous facial lesions in a 47-year-old woman.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hochwalt PC,
|
||
Swick BL,
|
||
Vanbeek M</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2013 Feb;149(2):223.
|
||
doi: 10.1001/archderm.149.2.223-c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23426483" target="_blank">23426483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichoepithelioma%2C%20multiple%20familial%2C%202%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 (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/28270164">Tropomyosin Receptor Antagonism in Cylindromatosis (TRAC), an early phase trial of a topical tropomyosin kinase inhibitor as a treatment for inherited CYLD defective skin tumours: study protocol for a randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cranston A,
|
||
Stocken DD,
|
||
Stamp E,
|
||
Roblin D,
|
||
Hamlin J,
|
||
Langtry J,
|
||
Plummer R,
|
||
Ashworth A,
|
||
Burn J,
|
||
Rajan N</span><br />
|
||
<span class="medgenPMjournal">Trials</span>
|
||
2017 Mar 7;18(1):111.
|
||
doi: 10.1186/s13063-017-1812-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28270164" target="_blank">28270164</a><a href="/pmc/articles/PMC5341402" target="_blank" class="PubMedFree">Free PMC Article</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 />
|
||
<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 class="nl"><a target="_blank" href="/pubmed/16792771">An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oosterkamp HM,
|
||
Neering H,
|
||
Nijman SM,
|
||
Dirac AM,
|
||
Mooi WJ,
|
||
Bernards R,
|
||
Brummelkamp TR</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2006 Jul;155(1):182-5.
|
||
doi: 10.1111/j.1365-2133.2006.07224.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16792771" target="_blank">16792771</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichoepithelioma%2C%20multiple%20familial%2C%202%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32744342">Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pap ÉM,
|
||
Farkas K,
|
||
Széll M,
|
||
Németh G,
|
||
Rajan N,
|
||
Nagy N</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2020 Oct;29(10):1017-1020.
|
||
Epub 2020 Sep 17
|
||
doi: 10.1111/exd.14161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32744342" target="_blank">32744342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30676842">Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersson MK,
|
||
Kölby L,
|
||
Nilsson JA,
|
||
Stenman G</span><br />
|
||
<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
|
||
2019 Apr;53(2):71-75.
|
||
Epub 2019 Jan 24
|
||
doi: 10.1080/2000656X.2018.1547736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30676842" target="_blank">30676842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22588548">A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kacerovska D,
|
||
Vanecek T,
|
||
Spagnolo DV,
|
||
Bisceglia M,
|
||
Zelger B,
|
||
Michal M,
|
||
Kazakov DV</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2013 Feb;35(1):19-24.
|
||
doi: 10.1097/DAD.0b013e318255dd37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22588548" target="_blank">22588548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21900959">CYLD regulates keratinocyte differentiation and skin cancer progression in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alameda JP,
|
||
Fernández-Aceñero MJ,
|
||
Moreno-Maldonado R,
|
||
Navarro M,
|
||
Quintana R,
|
||
Page A,
|
||
Ramírez A,
|
||
Bravo A,
|
||
Casanova ML</span><br />
|
||
<span class="medgenPMjournal">Cell Death Dis</span>
|
||
2011 Sep 8;2(9):e208.
|
||
doi: 10.1038/cddis.2011.82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21900959" target="_blank">21900959</a><a href="/pmc/articles/PMC3186900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10835629">Identification of the familial cylindromatosis tumour-suppressor gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bignell GR,
|
||
Warren W,
|
||
Seal S,
|
||
Takahashi M,
|
||
Rapley E,
|
||
Barfoot R,
|
||
Green H,
|
||
Brown C,
|
||
Biggs PJ,
|
||
Lakhani SR,
|
||
Jones C,
|
||
Hansen J,
|
||
Blair E,
|
||
Hofmann B,
|
||
Siebert R,
|
||
Turner G,
|
||
Evans DG,
|
||
Schrander-Stumpel C,
|
||
Beemer FA,
|
||
van Den Ouweland A,
|
||
Halley D,
|
||
Delpech B,
|
||
Cleveland MG,
|
||
Leigh I,
|
||
Leisti J,
|
||
Rasmussen S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2000 Jun;25(2):160-5.
|
||
doi: 10.1038/76006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10835629" target="_blank">10835629</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichoepithelioma%2C%20multiple%20familial%2C%202%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30676842">Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersson MK,
|
||
Kölby L,
|
||
Nilsson JA,
|
||
Stenman G</span><br />
|
||
<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
|
||
2019 Apr;53(2):71-75.
|
||
Epub 2019 Jan 24
|
||
doi: 10.1080/2000656X.2018.1547736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30676842" target="_blank">30676842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22588548">A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kacerovska D,
|
||
Vanecek T,
|
||
Spagnolo DV,
|
||
Bisceglia M,
|
||
Zelger B,
|
||
Michal M,
|
||
Kazakov DV</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2013 Feb;35(1):19-24.
|
||
doi: 10.1097/DAD.0b013e318255dd37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22588548" target="_blank">22588548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19917957">Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajan N,
|
||
Langtry JA,
|
||
Ashworth A,
|
||
Roberts C,
|
||
Chapman P,
|
||
Burn J,
|
||
Trainer AH</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2009 Nov;145(11):1277-84.
|
||
doi: 10.1001/archdermatol.2009.262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19917957" target="_blank">19917957</a><a href="/pmc/articles/PMC2935681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10835629">Identification of the familial cylindromatosis tumour-suppressor gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bignell GR,
|
||
Warren W,
|
||
Seal S,
|
||
Takahashi M,
|
||
Rapley E,
|
||
Barfoot R,
|
||
Green H,
|
||
Brown C,
|
||
Biggs PJ,
|
||
Lakhani SR,
|
||
Jones C,
|
||
Hansen J,
|
||
Blair E,
|
||
Hofmann B,
|
||
Siebert R,
|
||
Turner G,
|
||
Evans DG,
|
||
Schrander-Stumpel C,
|
||
Beemer FA,
|
||
van Den Ouweland A,
|
||
Halley D,
|
||
Delpech B,
|
||
Cleveland MG,
|
||
Leigh I,
|
||
Leisti J,
|
||
Rasmussen S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2000 Jun;25(2):160-5.
|
||
doi: 10.1038/76006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10835629" target="_blank">10835629</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trichoepithelioma%2C%20multiple%20familial%2C%202%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 (4)</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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|
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|
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|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
||
|
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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=612099" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Trichoepithelioma,%20multiple%20familial,%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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="https://catalog.coriell.org/Search?q=612099" 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="http://www.diseaseinfosearch.org/Trichoepithelioma+multiple+familial+2/7196" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/trichoepithelioma_multiple_familial_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Trichoepithelioma,%20multiple%20familial,%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10373/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Trichoepithelioma,%20multiple%20familial,%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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