Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi

摘要

Woolly hair nevus (WHN) is a mosaic disorder characterized by distinct patterns of tightly curled scalp hair, which can appear concurrently with epidermal nevi (EN) at other sites (Peteiro ef a/., 1989; Venugopal ef a/., 2012). Woolly hair is also found in congenital disorders resulting from mutations affecting diverse cellular components, including intermediate filament, adherens junction, and signal-transduction proteins (Harel and Christiano, 2012).