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

Objectives: 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.

Design: Interfamilial and intrafamilial observational study.

Setting: Tertiary genetic and dermatology referral center.