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.