Syndrome In Question

Abstract

Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma.

A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl

“…BSS is a rare autosomal dominant disorder characterized by a predisposition for the development of multiple adnexal neoplasms. Although the exact etiology is unknown, mutations or loss of heterozygosity in the cylindromatosis (CYLD) gene (16q12-q1) are identified in the majority of the cases [ 5 , 6 ].…”