Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.

摘要: Familial cylindromatosis (turban tumor syndrome; Brooke–Spiegler syndrome) (OMIM numbers 123850, 132700, 313100, and 605041) is a rare autosomal dominantly inherited syndrome. The disorder can present with cutaneous adnexal tumors such as cylindromas, trichoepitheliomas, spiradenomas, preferably develop in hairy areas of the body head neck. In affected families, mutations have been demonstrated CYLD gene located on chromosome 16q12–13 reveal characteristic attributes suppressor. Here, we studied familial multigeneration family German origin. Clinically, some individuals only revealed discrete small skin-colored localized nasolabial region whereas one member showed expansion multiple big trunk turban-like fashion scalp. Histologically, cylindromas well epithelioma adenoides cysticum were found. We detected frameshift mutation gene, designated 2253delG, underlying able to show that single result distinct clinical histologic expression cylindromatosis. reasons for different patterns same genetic defect this disease remain elusive, however. Identification enable us rapidly confirm putative diagnoses level provide families counseling.