Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations

Abstract

Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma (cribriform trichoblastoma).

Keywords

• skin adnexal tumors
• Brooke-Spiegler syndrome
• cylindroma