Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene

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 is called atrichia with papular lesions (APL), caused by germline pathogenic variants in the hairless (HR) gene and some somatic variants in HR are implicated in various malignancies. We report a case of a patient harbouring a germline homozygous nonsense variant in the HR gene presenting as APL with concomitant liver cancer.