DOI: https://doi.org/10.36347/sasjm.2026.v12i03.005

Pages: 184-187

Background: Menkes disease is a rare X-linked recessive neurocutaneous disorder caused by mutations in the ATP7A gene, leading to impaired copper transport and multisystemic involvement. Objective: To describe the dermatological, neurological, and genetic features of Menkes disease through the report of three siblings, highlighting the role of dermatologists in early diagnosis. Methods: We report three siblings from the same family who presented with characteristic hair and skin abnormalities. Clinical, dermoscopic, neurological, and genetic evaluations were performed. Results: All patients exhibited pili torti, hair rarefaction, hypopigmented and hyperlax skin, associated with growth retardation and progressive neurological deterioration. Molecular analysis confirmed pathogenic mutations in the ATP7A gene. Conclusion: Dermatological findings, especially hair shaft abnormalities, represent key early diagnostic clues in Menkes disease. Early recognition is essential for prompt genetic confirmation, initiation of copper therapy, and family counseling.