{"id":"https://openalex.org/W7124294097","doi":"https://doi.org/10.1016/j.abd.2025.501282","title":"Novel sporadic c.2687G>T (p.Gly896Val) CYLD mutation in multiple trichoepitheliomas","display_name":"Novel sporadic c.2687G>T (p.Gly896Val) CYLD mutation in multiple trichoepitheliomas","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7124294097","doi":"https://doi.org/10.1016/j.abd.2025.501282","pmid":"https://pubmed.ncbi.nlm.nih.gov/41544310","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12834918"},"language":"en","primary_location":{"id":"doi:10.1016/j.abd.2025.501282","doi":"https://doi.org/10.1016/j.abd.2025.501282","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.abd.2025.501282","pdf_url":null,"source":{"id":"https://openalex.org/S21531352","display_name":"Anais Brasileiros de Dermatologia","issn_l":"0365-0596","issn":["0365-0596","1806-4841"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","medline","norway-1","oarl","poland-70","scielo"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anais Brasileiros de Dermatologia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.abd.2025.501282","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070876774","display_name":"Ahmet U\u011fur At\u0131lan","orcid":"https://orcid.org/0000-0001-9244-1011","observed_orcids":["https://orcid.org/0000-0001-9244-1011"]},"institutions":[{"id":"https://openalex.org/I48843708","display_name":"Pamukkale University","ror":"https://ror.org/01etz1309","country_code":"TR","type":"education","lineage":["https://openalex.org/I48843708"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Ahmet U\u011fur At\u0131lan","raw_affiliation_strings":["Department of Dermatology, School of Medicine, Pamukkale University, Denizli, Turkey. Electronic address: auatilan@pau.edu.tr"],"raw_orcid":"https://orcid.org/0000-0001-9244-1011","affiliations":[{"raw_affiliation_string":"Department of Dermatology, School of Medicine, Pamukkale University, Denizli, Turkey. Electronic address: auatilan@pau.edu.tr","institution_ids":["https://openalex.org/I48843708"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5056008314","display_name":"Niyazi \u00c7etin","orcid":"https://orcid.org/0009-0009-9280-6135","observed_orcids":["https://orcid.org/0009-0009-9280-6135"]},"institutions":[{"id":"https://openalex.org/I48843708","display_name":"Pamukkale University","ror":"https://ror.org/01etz1309","country_code":"TR","type":"education","lineage":["https://openalex.org/I48843708"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Niyazi Cetin","raw_affiliation_strings":["Department of Dermatology, School of Medicine, Pamukkale University, Denizli, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, School of Medicine, Pamukkale University, Denizli, Turkey","institution_ids":["https://openalex.org/I48843708"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5070876774"],"corresponding_institution_ids":["https://openalex.org/I48843708"],"apc_list":{"value":1700,"currency":"USD","value_usd":1700},"apc_paid":{"value":1700,"currency":"USD","value_usd":1700},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"101","issue":"1","first_page":"501282","last_page":"501282"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11868","display_name":"Cancer and Skin Lesions","score":0.9429000020027161,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11868","display_name":"Cancer and Skin Lesions","score":0.9429000020027161,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.05180000141263008,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/multiple-trichoepithelioma","display_name":"multiple trichoepithelioma","score":0.9959999918937683},{"id":"https://openalex.org/keywords/cyld-gene","display_name":"CYLD gene","score":0.9139999747276306},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8130000233650208},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.9259999990463257},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.7360000014305115},{"id":"https://openalex.org/keywords/pilosebaceous-unit","display_name":"pilosebaceous unit","score":0.906000018119812},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7689999938011169},{"id":"https://openalex.org/keywords/dermoscopy","display_name":"dermoscopy","score":0.5720000267028809}],"concepts":[{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5841000080108643},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5575000047683716},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5078999996185303},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37139999866485596},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37130001187324524},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.36489999294281006},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.33559998869895935},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3059999942779541},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.2985000014305115},{"id":"https://openalex.org/C2778264664","wikidata":"https://www.wikidata.org/wiki/Q422445","display_name":"Tumor suppressor gene","level":4,"score":0.27570000290870667},{"id":"https://openalex.org/C179185449","wikidata":"https://www.wikidata.org/wiki/Q219699","display_name":"Suppressor","level":3,"score":0.26669999957084656},{"id":"https://openalex.org/C81885089","wikidata":"https://www.wikidata.org/wiki/Q189082","display_name":"Cell culture","level":2,"score":0.2549999952316284},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2506999969482422}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1016/j.abd.2025.501282","doi":"https://doi.org/10.1016/j.abd.2025.501282","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.abd.2025.501282","pdf_url":null,"source":{"id":"https://openalex.org/S21531352","display_name":"Anais Brasileiros de Dermatologia","issn_l":"0365-0596","issn":["0365-0596","1806-4841"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","medline","norway-1","oarl","poland-70","scielo"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anais Brasileiros de Dermatologia","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12834918","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12834918/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12834918/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"An Bras Dermatol","raw_type":"Text"},{"id":"pmid:41544310","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41544310","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anais brasileiros de dermatologia","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:218fc60076704a4685303f69ce4d2454","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/218fc60076704a4685303f69ce4d2454","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Anais Brasileiros de Dermatologia, Vol 101, Iss 1 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.abd.2025.501282","doi":"https://doi.org/10.1016/j.abd.2025.501282","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.abd.2025.501282","pdf_url":null,"source":{"id":"https://openalex.org/S21531352","display_name":"Anais Brasileiros de Dermatologia","issn_l":"0365-0596","issn":["0365-0596","1806-4841"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","medline","norway-1","oarl","poland-70","scielo"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Anais Brasileiros de Dermatologia","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7124294097.pdf","grobid_xml":"https://content.openalex.org/works/W7124294097.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W2000886300","https://openalex.org/W2006211913","https://openalex.org/W2071125444","https://openalex.org/W2126889273","https://openalex.org/W2326378973","https://openalex.org/W2512701244","https://openalex.org/W2810809004","https://openalex.org/W4382632016","https://openalex.org/W4392133439"],"related_works":["https://openalex.org/W7130453759","https://openalex.org/W3098158282","https://openalex.org/W2612050052","https://openalex.org/W1891784277","https://openalex.org/W1852466370","https://openalex.org/W2034411963","https://openalex.org/W2995762510","https://openalex.org/W2436911656","https://openalex.org/W2783540583","https://openalex.org/W2150283227"],"abstract_inverted_index":{"Novel":[0],"sporadic":[1,102],"c.2687G>T":[2],"(p.Gly896Val)":[3],"CYLD":[4,37,52,60,79,107],"mutation":[5,104],"in":[6,35,50,58,105,136,185],"multiple":[7,22,70,96],"trichoepitheliomas":[8],"\u0b1d":[9],"Dear":[10],"Editor,Multiple":[11],"trichoepithelioma":[12,97,256],"(MTE)":[13],"is":[14,31],"a":[15,93,100,163,210,234],"rare":[16],"autosomal":[17],"dominant":[18],"neoplasm":[19],"characterized":[20],"by":[21],"skin-colored":[23,180],"papules,":[24],"primarily":[25],"on":[26,116,187,200,214,225,249],"the":[27,36,44,51,59,106,117,128,147,201,215,219,226,229,250],"face.":[28],"1":[29],"It":[30],"associated":[32,55],"with":[33,56,99,112,209,237],"mutations":[34,49,80],"tumor":[38],"suppressor":[39],"gene":[40,53],"and":[41,69,87,121,133,144,149,169,191,204,222,245],"originates":[42],"from":[43],"pilosebaceous":[45],"unit.":[46],"2":[47],"Variant":[48],"are":[54,81],"diseases":[57],"cutaneous":[61],"spectrum,":[62],"such":[63,154],"as":[64,155],"Brooke-Spiegler":[65],"syndrome,":[66],"familial":[67,71,74],"cylindromatosis,":[68],"trichoepithelioma.3":[72],"While":[73],"cases":[75],"predominate,":[76],"de":[77],"novo":[78],"rarely":[82],"documented,":[83],"limiting":[84],"genotype-phenotype":[85],"correlations":[86],"genetic":[88],"counselling":[89],"guidance.Here,":[90],"we":[91],"report":[92],"case":[94],"of":[95,131,166,183,218,228,255,261],"presenting":[98],"new":[101],"missense":[103],"gene.A":[108],"31-year-old":[109],"woman":[110],"presented":[111],"asymptomatic":[113],"papular":[114,181],"lesions":[115,182,197],"nasolabial":[118],"folds,":[119],"nose,":[120],"forehead,":[122],"which":[123,252],"had":[124],"first":[125,129],"appeared":[126],"during":[127],"month":[130],"life":[132],"progressively":[134],"increased":[135],"number":[137],"over":[138],"time":[139],"(Fig.":[140,193,206,257],"1).Lesions":[141],"began":[142],"perinasally":[143],"later":[145],"involved":[146],"scalp":[148,205],"extremities.No":[150],"additional":[151],"skin":[152],"tumor,":[153],"cylindroma":[156],"or":[157,266],"spiradenoma,":[158],"was":[159,171],"detected.The":[160],"patient":[161],"denied":[162],"family":[164],"history":[165],"similar":[167],"lesions,":[168],"there":[170],"no":[172,273],"known":[173],"consanguinity.Physical":[174],"examination":[175,232],"revealed":[176,233],"multiple,":[177],"firm,":[178],"asymptomatic,":[179],"0.2---0.4cm":[184],"diameter":[186],"bilateral":[188],"nasal":[189],"margins":[190],"forehead":[192],"1).Multiple":[194],"soft":[195],"nodular":[196],"were":[198,253,269],"observed":[199],"occipital":[202],"region":[203],"2),":[207],"along":[208],"1.4":[211],"cm":[212],"nodule":[213],"extensor":[216],"surface":[217],"right":[220],"elbow":[221],"hyperkeratotic":[223],"papules":[224],"dorsum":[227],"left":[230],"toes.Dermatoscopic":[231],"regular":[235,238],"architecture":[236],"borders,":[239],"thin,":[240],"irregular":[241],"vessels":[242],"located":[243],"peripherally,":[244],"opaque":[246],"white":[247],"areas":[248],"lesion,":[251],"suggestive":[254],"3).No":[258],"dermoscopic":[259],"signs":[260],"basal":[262],"cell":[263],"carcinoma":[264],"(BCC)":[265],"sebaceous":[267],"adenoma":[268],"present.Laboratory":[270],"investigations":[271],"showed":[272],"abnormalities.A":[274],"punch":[275]},"counts_by_year":[],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-01-16T00:00:00"}
