Brooke-Spiegler syndrome

Brooke-Spiegler syndrome (BRSS) is caused by heterozygous mutation in the CYLD gene (MIM.605018) on chromosome 16q12.

Allelic disorders include familial cylindromatosis (MIM.132700) and multiple familial trichoepithelioma-1 (MFT1; MIM.601606), which show overlapping phenotypes.