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 ?
Depending on the predominant type of lesion, phenotypic variants include multiple familial trichoepithelioma type 1 and familial cylindromatosis. (2) BSS is caused by mutations within CYLD, a tumor-suppressor gene located on chromosome 16q12-q13.
miR-362 targeted cylindromatosis (CYLD) activation of the NF-kB pathway induced cell growth and apoptosis tolerance in gastric cancer.
Seal et al., "Identification of the familial cylindromatosis tumor-suppressor gene," Nature Genetics, vol.
Complex I transits into the cytosol activating death-inducing TNFR1 complex II via cylindromatosis (CYLD) [18].
Rarely, multiple cylindromas can be encountered in familial cylindromatosis, an autosomal dominant genetic condition, or in Brook-Spiegler syndrome, a clinical setting in which multiple adnexal tumor types may manifest at younger ages and may involve other body regions such as the trunk and extremities [4-6].
Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma are allelic and are considered to represent phenotypic spectrum of a single disease entity.
Cylindromatosis (CYLD) is a tumor suppressor that regulates signaling pathways by acting as a deubiquitinating enzyme [14].
As one of the DUBs, cylindromatosis (CYLD) is the main negative regulatory factor and inflammation inhibiting factor in the NF-[kappa]B signaling pathway.
The enhancement of this antiviral immune response then derived from suppressing cylindromatosis (CYLD) expression by miR-526a.
RIP1 can be deubiquitylated by the Lys63-deubiquitylating enzyme cylindromatosis (CYLD) (26) and form a complex with TRADD, FAS-associated death domain protein (FADD), and caspase-8 (i.e., the death-inducing signaling complex [DISC]) (27).
Malignant cylindroma of the scalp arising in a setting of multiple cylindromatosis: a case report.
Chronic lymphocytic leukemia cells have been reported to have defects in components involved in necroptosis regulation such as RIP3 and the deubiquitination cylindromatosis (CYLD), an enzyme directly regulating RIP1 ubiquitination [68].