Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors

Abstract

The authors report a case of Brooke-Spiegler syndrome (BSS) with a novel germline CYLD mutation and various somatic mutations identified in the lesional tissues.

Keywords

• Brooke-Spiegler syndrome
• CYLD gene
• somatic mutation
• tumor