cylindromatosis

cylindromatosis

(sil-in-drō'mă-tō'sis),
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."

CLYD

A 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.

Molecular pathology
CLYD mutations are causatively linked to cylindromatosis, multiple familial trichoepithelioma and Brooke-Spiegler syndrome.

cylindromatosis

A 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.
References in periodicals archive ?
Multiple cylindromas accompanied by spiradenomas or trichoepitheliomas or both are found in inherited syndromes, such as Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma syndrome.
61 (b) cylindromatosis (turban tumor syndrome); cylindromatosis 1 rc_A1070721_s_at glial cell line derived -2.
Turban tumour syndrome, known medically as cylindromatosis, causes huge mushroomshaped tumours to grow out of the scalp and other hairy parts of the body.
Liz, 47, from Newcastle, suffers from cylindromatosis, atype of skin tumour which occurs mainly on the scalp.