(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 .
V Kazakov, "Brooke-spiegler syndrome and phenotypic variants: an update," Head & Neck Pathology, vol.
, 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