Understanding Inherited Cylindromas: Clinical Implications of Gene Discovery

Abstract

Cylindromas are cutaneous tumors first described in the medical literature over 150 years ago. They are now known to occur on an inherited basis as a result of mutations in the tumor-suppressor gene CYLD. The discovery of this gene has provided novel insights into this rare skin tumor syndrome. As well as enabling genetic counseling of affected patients, the knowledge of CYLD function has led to steps toward development of novel therapeutics, with CYLD-regulated signaling pathways as the target for this approach.

Keywords: Brooke-Spiegler syndrome; CYLD; CYLD cutaneous syndrome; Cylindroma; Spiradenoma.