Brooke-Spiegler Syndrome

Abstract

Brooke-Spiegler syndrome (BSS) is an autosomal dominant (AD) inherited syndrome predisposing those affected, to the development of multiple hamartomas/neoplasms derived from skin appendage structures. These tumors include cylindromas, trichoepitheliomas, and spiradenomas. In the setting of BSS, these lesions most often appear as multiple papules or nodules on the head and neck region during adolescence or early adulthood. BSS may be mistaken for the eruption of acne vulgaris [1, 2]. While BSS was initially described as a unique entity, it is now thought to exist as part of a spectrum of AD appendage tumor syndromes allelic for germline mutations within the Cylindromatosis (CYLD) gene. This group includes two other syndromes: familial cylindromatosis (FC) and multiple familial trichoepithelioma (MFT) [2]. As indicated by their name, MFT is characterized by trichoepitheliomas, while FC is characterized by cylindromas [3]. Therefore, MFT and FC represent two ends of a spectrum with BSS falling within the middle [4].