Monday 5 December 2011
Brooke-Spiegler syndrome (BRSS) is caused by heterozygous mutation in the CYLD gene (MIM.605018) on chromosome 16q12.
Allelic disorders include familial cylindromatosis (MIM.132700) and multiple familial trichoepithelioma-1 (MFT1; MIM.601606), which show overlapping phenotypes.
Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.
Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity.
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type.
Sima R, Vanecek T, Kacerovska D, Trubac P, Cribier B, Rutten A, Vazmitel M, Spagnolo DV, Litvik R, Vantuchova Y, Weyers W, Pearce RL, Pearn J, Michal M, Kazakov DV. Diagn Mol Pathol. 2010 Jun;19(2):83-91. PMID: 20502185