| Modification Notes |
Familial cylindromatosis is an autosomal dominant predisposition to tumours of skin appendages called cylindromas (1). Cylindromas are benign adnexal skin tumors caused by germline mutations in the CYLD gene (2), which maps to 16q12-13 (3). CYLD is a deubiquitinating enzyme that negatively regulates activation of NF˚B by specific TNF receptors (1) and is required for appropriate cellular homeostasis of skin appendages (1). Mutations in the CYLD gene are also involved in Brooke-Spiegler syndrome, an inherited disease characterized by neoplasms of the skin appendages such as cylindroma, trichoepithelioma, and spiradenoma (3,4). The Drosophila homolog of CYLD is referenced in Flybase as CG5603 (5). |