title: Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
abstract: Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct entities, share overlapping clinical findings. Patients with BSS are predisposed to multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. FC, however, is characterized by cylindromas and MFT by trichoepitheliomas as the only tumor type. These disorders have recently been associated with mutations in the CYLD gene. In this report, we describe three families with BSS, one with FC, and two with MFT phenotypes associated with novel and recurrent mutations in CYLD. We provide evidence that these disorders represent phenotypic variation of a single entity and lack genotype-phenotype correlation.
authors.affiliation: Department of Dermatology, Columbia University, New York, New York 10032, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Bowen
authors.forename: Melissa
authors.initials: M
authors.lastname: Gill
authors.forename: David A
authors.initials: DA
authors.lastname: Lee
authors.forename: Galen
authors.initials: G
authors.lastname: Fisher
authors.forename: Roy G
authors.initials: RG
authors.lastname: Geronemus
authors.forename: Marialuisa Espinel
authors.initials: ME
authors.lastname: Vazquez
authors.forename: Julide Tok
authors.initials: JT
authors.lastname: Celebi
mesh_terms: D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D018280:Carcinoma, Skin Appendage / Q000235:genetics*; D000074749:Deubiquitinating Enzyme CYLD; D005838:Genotype; D006801:Humans; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD