Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report

Atrichia with papular lesions is a rare autosomal recessive genodermatosis characterized by complete, irreversible hair loss that typically begins in infancy and is often misdiagnosed due to phenotypic similarity to other forms of alopecia. A 4-year-old male patient presented with complete hair loss since infancy, with absent eyebrows and eyelashes and no evidence of regrowth. His younger sister exhibited identical features, consistent with a history of consanguinity in the family. Physical examination revealed smooth skin and multiple firm, painless, keratotic papules (2–3 mm) on the scalp and cheeks. A 4-mm punch biopsy demonstrated an absence of mature hair follicles, replaced by keratin-filled cysts without significant inflammation. These histopathological findings, together with the clinical presentation, supported a high-likelihood diagnosis of atrichia with papular lesions. Established diagnostic criteria supported this assessment even in the absence of human hairless gene testing, particularly in consanguineous families in resource-limited settings. The family received counseling regarding the irreversible nature of the condition and was offered psychological support. This case highlights the diagnostic challenges encountered in resource-limited settings and proposes a clinical framework that prioritizes heightened clinical awareness and targeted screening in high-risk populations, including consanguineous families with a history of atrichia with papular lesions or other autosomal recessive skin disorders.