SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature

Dyschromatosis universalis hereditaria (DUH) is a rare genetic skin disorder marked by lifelong hyper- and hypopigmented macules. While ABCB6 mutations are common in DUH, recent studies highlight the significance of SASH1 gene mutations, which are often inherited in an autosomal dominant manner. SASH1 mutations are linked to various pigmentation disorders, including DUH, lentiginosis, and a rare autosomal recessive form with alopecia and other symptoms. SASH1 functions as a tumor suppressor and pro-melanogenic factor, influencing pathways critical for melanosome production and melanocyte behavior. Understanding SASH1's role in pigmentation could lead to new treatments for these disorders, enhancing patient care.