A rare genetic disorder [MIM#132700] characterized by the formation of numerous benign papules and nodules arising from skin adnexal structures and occurring principally on the face and scalp. When lesions are confluent the condition is called a "turban tumor."
Farlex Partner Medical Dictionary © Farlex 2012
CLYDA gene on chromosome 16q12.1 that encodes a cytoplasmic protein with deubiquitinating activity and plays a key role in regulating pathways leading to NF-kappa-B activation, which affects cell survival, proliferation and differentiation.
CLYD mutations are causatively linked to cylindromatosis, multiple familial trichoepithelioma and Brooke-Spiegler syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
cylindromatosisA rare familial disorder featuring a ‘turban’ of numerous benign skin tumours affecting mainly the forehead and scalp. Cylindromas are caused by a mutation of the CYLD gene and is a condition with variable penetrance. The CYLD gene codes for an enzyme that remove ubiquitin from proteins. The loss of CYLD increases the level of a transcription factor that inhibits APOPTOSIS, thus promoting tumour formation.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005