Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions

The study investigated congenital atrichia with papular lesions (APL), a rare form of total alopecia linked to mutations in the hairless (hr) gene, and suggested it might have been more common than previously thought, often misdiagnosed as alopecia universalis. It involved 10 Arab families and identified a novel missense mutation in the hr gene in an Arab Palestinian family. Affected individuals exhibited complete hair loss shortly after birth, with papules developing by age 2, and a new clinical feature of hypopigmented whitish streaks on the scalp. The study proposed diagnostic criteria emphasizing family history, clinical features, and genetic testing to improve diagnosis accuracy and prevent unnecessary treatments.