A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

B rooke-Spiegler syndrome (BSS) includes the com- bination of spiradenomas, cylindromas, and trichoepitheliomas.It has been postulated that BSS results from defects in the regulation of putative stem cells of the folliculosebaceous-apocrine unit. 1 This follicular dysregulation may give rise to 3 different genodermatoses: familial cylindromatosis (FC), multiple familial trichoepithelioma (MFT), or the classic triad of BSS.The gene for FC was mapped to chromosome 16q12-q13. 2At present, 32 different germline mutations in the CYLD gene have been described, 3 20 in families with FC, 8 in families with MFT, and 4 in families with BSS.Taken together, these observations suggest that these inherited syndromes associated with skin appendage tumors not only share a common genetic basis but also may represent phenotypic variation of the same disease. 4