Korean J Dermatol.
2012 Oct;50(10):891-895.
Hair Abnormality and Cutis Laxa in Menkes Disease
- Affiliations
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- 1Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. miumiu@amc.seoul.kr
- 2Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 3Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Abstract
- Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.
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