Congenital Atrichia With Papular Lesions

Congenital atrichia with papular lesions (APL) was described as a rare, autosomal recessive condition characterized by irreversible total body hair loss shortly after birth, accompanied by the development of keratin-filled cysts or horny papules. This condition was linked to a mutation in the human hairless gene on chromosome region 8p12. The case study presented a 1-year-old boy, born from a third-degree consanguineous marriage, who exhibited complete absence of scalp and body hair since birth, along with multiple skin-colored papules on the scalp. Despite previous treatments for alopecia universalis and vitamin D-dependent rickets type IIA, his alopecia remained unresponsive. A skin biopsy revealed normal epidermis with multiple keratin cysts and hypoplastic hair follicles. A 15-year-old relative reportedly had similar lesions, suggesting a genetic component.