Inês P Amaral, Ivânia Soares, Madalena P Correia, Catarina Correia, Pedro Vasconcelos, Luis S Almeida, Paulo Filipe
{"title":"与头皮多发性圆柱状瘤相关的新型 CYLD 致病变体--病例报告。","authors":"Inês P Amaral, Ivânia Soares, Madalena P Correia, Catarina Correia, Pedro Vasconcelos, Luis S Almeida, Paulo Filipe","doi":"10.1002/ski2.436","DOIUrl":null,"url":null,"abstract":"<p><p>Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.</p>","PeriodicalId":74804,"journal":{"name":"Skin health and disease","volume":"4 5","pages":"e436"},"PeriodicalIF":0.0000,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442051/pdf/","citationCount":"0","resultStr":"{\"title\":\"Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp-A case report.\",\"authors\":\"Inês P Amaral, Ivânia Soares, Madalena P Correia, Catarina Correia, Pedro Vasconcelos, Luis S Almeida, Paulo Filipe\",\"doi\":\"10.1002/ski2.436\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.</p>\",\"PeriodicalId\":74804,\"journal\":{\"name\":\"Skin health and disease\",\"volume\":\"4 5\",\"pages\":\"e436\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-08-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442051/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Skin health and disease\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1002/ski2.436\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Skin health and disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/ski2.436","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp-A case report.
Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.