Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Archives of Dermatology
Neil RajanAlison H Trainer

Abstract

To comprehensively ascertain the extent and severity of clinical features in affected individuals from 2 large families with proven heterozygous mutations in the CYLD locus and to correlate these findings with the 3 appendageal tumor predisposition syndromes (familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepitheliomas) known to be associated with such germline mutations. Interfamilial and intrafamilial observational study. Tertiary genetic and dermatology referral center. Thirty-four individuals recruited from 2 large multigenerational families with CYLD mutations. Clinical details, history, and tumor maps were obtained from all participants; in 18, the information was corroborated by detailed clinical examination. Tumor density, distribution and histologic findings, associated medical conditions, patient symptoms, and impact of disease on quality of life. The severity of penetrance and phenotype varied within families. Although an approximately equal female to male predisposition was noted, 5 women and 1 man (of 26 patients surveyed [23%]) had undergone total scalp removal. The average age at onset was 16 years (range, 8-30 years). Symptoms reported by affected patients included painful tumors ...Continue Reading

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