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