The relevance of a suppressor of fused (SUFU) mutation in the diagnosis and treatment of Gorlin syndrome

Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome (GS), is an aberrant activation of the sonic hedgehog pathway (Hh). GS was first described in the literature in 1894 and the Hh pathway's role in its development was discovered thereafter.1 The Hh pathway regulates cell growth and development of the integumentary, central nervous, and musculoskeletal systems, where its overactivation causes abnormalities. In GS, this manifests as, among other clinical sequela, numerous basal cell carcinomas (BCC) that vary in quantity from a few to several thousand.