Brooke-Spiegler syndrome

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."

Brooke-Spiegler syndrome

An autosomal dominant OMIM 605041 condition characterised by multiple skin adnexal tumours (cylindromas, trichoepitheliomas and spiradenomas), typically located in the head and neck region, and basal cell adenomas of salivary glands.

Molecular pathology
Caused by a mutation in CLYD, a tumour-suppressor gene that encodes a deubiquitinating enzyme, which inhibits NF-kB activation.
References in periodicals archive ?
(1) Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant condition where affected individuals have multiple trichoepitheliomas, cylindromas, and spiradenomas.
Work comparing specific mutations in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma type 1 kindreds may reveal genotype-phenotype correlations and may promote increased understanding of disease mechanisms allowing for development of future therapeutic modalities [22].
V Kazakov, "Brooke-spiegler syndrome and phenotypic variants: an update," Head & Neck Pathology, vol.
Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma are allelic and are considered to represent phenotypic spectrum of a single disease entity.
Hereditary Conditions.--Multiple cylindromas (socalled turban tumor) are seen in familial cylindromatosis (Brooke-Spiegler syndrome), which is inherited in an autosomal dominant fashion.
Brooke-Spiegler syndrome. J Eur Acad Dermatol Venereol.
Malignant cylindroma in Brooke-Spiegler syndrome. Dermatology.
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler Syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.
In Brooke-Spiegler syndrome, a defect exists in the CYLD gene located on chromosome 9.
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation.
Rarely, syringoma may be associated with the Brooke-Spiegler syndrome, an autosomal dominant disease characterized by the development of multiple cylindromas, trichoepitheliomas, and occasional spiradenomas.4