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KMID : 0363220120500100891
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Korean Journal of Dermatology
2012 Volume.50 No. 10 p.891 ~ p.895
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Hair Abnormality and Cutis Laxa in Menkes Disease
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Lee Hyung-Min
Kim Jae-Kyung
Won Chong-Hyun
Chang Sung-Eun
Lee Mi-Woo
Choi Jee-Ho
Moon Kee-Chan
Lee Beom-Hee
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Abstract
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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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KEYWORD
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Cutis laxa, Kinky hair, Menkes disease, Pili torti
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