title: Case of the Brooke-Spiegler syndrome.
abstract: A 36-year-old woman presented with lesions on her scalp, face and trunk. Histopathological examination of these lesions demonstrated facial trichoepithelioma, and scalp cylindroma. A solitary nodule on the trunk had features of cylindroma, spiradenoma and trichoepithelioma, a previously unreported occurrence. Based on the clinical picture, the diagnosis of Brooke-Spiegler syndrome was established. Genetic studies confirmed the diagnosis, demonstrating a splice site mutation, designated 1518+2T>C, on the CYLD1 gene of chromosome 16q12-q13.
authors.affiliation: St John's Institute of Dermatology, St Thomas' Hospital, London, UK. hoanglydr@yahoo.com
authors.forename: Hoang
authors.initials: H
authors.lastname: Ly
authors.forename: Martin M
authors.initials: MM
authors.lastname: Black
authors.forename: Alistair
authors.initials: A
authors.lastname: Robson
mesh_terms: D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000175:diagnosis* / Q000473:pathology; D000074749:Deubiquitinating Enzyme CYLD; D003937:Diagnosis, Differential; D005145:Face; D005260:Female; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000473:pathology; D012535:Scalp; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD