title: Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
abstract: Brooke-Spiegler syndrome (BSS) is an autosomal dominant disease characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. The disease gene was mapped to 16q12-13, and mutations in the CYLD gene were identified in families with BSS. In the present report, we describe a large consanguineous Chinese family with BSS showing an intra-family phenotypic variability. Clinically, some affected individuals only revealed discrete small skin-coloured tumors whereas the proband showed an expansion of multiple large tumors on the back of nose and numerous dome-shaped papules on her scalp. Histologically, both trichoepitheliomas and cylindromas were found in the affected individuals. By sequence analysis, we identified a recurrent mutation 2272C>T (R758X) of the CYLD gene in the affected individuals of this family, which was previously identified in other ethnic families with familial cylindromatosis. Our result provided additional information for phenotype-genotype correlation in BSS.
authors.affiliation: Institute of Dermatology & Department of Dermatology at First Hospital, Anhui Medical University, Hefei, China.
authors.forename: Guolong
authors.initials: G
authors.lastname: Zhang
authors.forename: Yijin
authors.initials: Y
authors.lastname: Huang
authors.forename: Kailin
authors.initials: K
authors.lastname: Yan
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Xing
authors.initials: X
authors.lastname: Fan
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Liang
authors.forename: Liangdan
authors.initials: L
authors.lastname: Sun
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Shumei
authors.initials: S
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Wenhui
authors.initials: W
authors.lastname: Du
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics* / Q000473:pathology; D018280:Carcinoma, Skin Appendage / Q000235:genetics* / Q000473:pathology; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD