Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llad005
Abstract: Congenital atrichia is a rare disorder featuring the gradual shedding of hair at birth with near total hair loss in succeeding weeks or months. When accompanied by milia-like papules on the face or body, it… read more here.
Keywords: hairless gene; atrichia papular; homozygous nonsense; papular lesions ... See more keywords