Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma.

The article presents a case study of a 46-year-old Chinese woman who suffers from slightly painful and pale blue nodes on her forearm for 30 years, on her face and scalp for 10 years and her 25-year-old nephew has similar lesion on the face. The patients were diagnosed with Brooke-Spiegler syndrome (BSS) and trichoepithelioma, respectively. Mutations in the CYLD gene were considered as the cause of the syndrome.