LAUSR

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, caused by germline pathogenic variants in the hairless (HR) gene. Some somatic variants in HR, however, are implicated in various malignancies. Herein, we report a case harbouring a germline homozygous nonsense variant in the HR gene presenting as APL with concomitant liver cancer in a Filipino child.