title: CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
abstract: Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.
authors.affiliation: Department of Dermatology, Columbia University, New York, NY 10032, USA.
authors.forename: A L
authors.initials: AL
authors.lastname: Young
authors.forename: R
authors.initials: R
authors.lastname: Kellermayer
authors.forename: R
authors.initials: R
authors.lastname: Szigeti
authors.forename: A
authors.initials: A
authors.lastname: Tészás
authors.forename: S
authors.initials: S
authors.lastname: Azmi
authors.forename: J T
authors.initials: JT
authors.lastname: Celebi
mesh_terms: D000368:Aged; D018280:Carcinoma, Skin Appendage / Q000235:genetics* / Q000473:pathology; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD