Brooke-Spiegler Syndrome – an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation

[摘要] Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis.

[学科分类] 皮肤病学

[关键词] CYLD protein;cylindroma;dermoscopy;gene;mutation;spiradenoma