| Modification Notes |
Familial cylindromatosis is an autosomal dominant genetic predisposition to multiple benign neoplasms of the skin known as cylindromas. These cylindromas may become infected, resulting in disfigurement and discomfort. In severe cases, ulcerated cylindromas are only treatable by reconstructive surgery with skin grafts. The human CYLD gene on chromosome 16q12.1 encodes the protein cylindromatosis 1. Mutations in this gene are responsible for familial cylindromatosis. The cylindromatosis 1 protein contains three cytoskeletal-associated protein-glycineconserved (CAP-GLY) domains and may function to coordinate the attachment of organelles to microtubules. Cylindromatosis 1 is expressed in brain, gonads, skeletal muscle, spleen, liver, heart, lung and leukocytes. Somatic mutations of the CYLD gene appear to play a role in the oncogenesis of tumors with cylindromatous features. |