Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report

Abstract

Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.