title: Trichoepithelioma.
abstract: A 29-year-old man presented with a long-standing history of asymptomatic, skin-colored, facial papules and nodules. Histopathologic examination of a representative papule demonstrated trichoepithelioma. The patient had a history of a brother with a similar phenotype, which suggests a diagnosis of familial trichoepithelioma. Linkage and mutational analyses support genetic heterogeneity of familial trichoepithelioma, possibly sharing a clinical spectrum with Brooke-Spiegler syndrome and familial cylindromatosis since each entity has been associated with mutations the CYLD gene.
authors.affiliation: Department of Dermatology, New York University, USA.
authors.forename: Hillary
authors.initials: H
authors.lastname: Johnson
authors.forename: Mirin
authors.initials: M
authors.lastname: Robles
authors.forename: Hideko
authors.initials: H
authors.lastname: Kamino
authors.forename: Ruth F
authors.initials: RF
authors.lastname: Walters
authors.forename: Arnold
authors.initials: A
authors.lastname: Lee
authors.forename: Miguel
authors.initials: M
authors.lastname: Sanchez
mesh_terms: D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics; D000074749:Deubiquitinating Enzyme CYLD; D005153:Facial Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D016147:Genes, Tumor Suppressor; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D018295:Neoplasms, Basal Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000502:physiology
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD