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."

Synonym(s): Brooke-Spiegler syndrome, familial cylindromatosis, turban tumor syndrome

Farlex Partner Medical Dictionary © Farlex 2012

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.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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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.

Trichoepitheliomas

Seal et al., "Identification of the familial cylindromatosis tumor-suppressor gene," Nature Genetics, vol.

Peroxisome Proliferator-Activated Receptor [gamma] and PGC-1[alpha] in Cancer: Dual Actions as Tumor Promoter and Suppressor

Complex I transits into the cytosol activating death-inducing TNFR1 complex II via cylindromatosis (CYLD) [18].

The Pathogenesis of Necroptosis-Dependent Signaling Pathway in Cerebral Ischemic Disease

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].

Cutaneous Adnexal Cylindroma of Breast: Epithelial Immunoreactivities for GATA-3, Mammaglobin, and E-Cadherin Do Not Equate to a Mammary Ductal Neoplasm

Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma are allelic and are considered to represent phenotypic spectrum of a single disease entity.

Multiple familial trichoepithelioma in mother and daughter

The enhancement of this antiviral immune response then derived from suppressing cylindromatosis (CYLD) expression by miR-526a.

The role of microRNAs in enteroviral infections

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).

The role of necroptosis in neurosurgical diseases

Malignant cylindroma of the scalp arising in a setting of multiple cylindromatosis: a case report.

Malignant change in a solitary cylindroma: a rare 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].

Necroptosis: molecular signalling and translational implications