Hair Abnormality and Cutis Laxa in Menkes Disease.
- Author:
Hyung Min LEE
1
;
Jae Kyung KIM
;
Chong Hyun WON
;
Sung Eun CHANG
;
Mi Woo LEE
;
Jee Ho CHOI
;
Kee Chan MOON
;
Beom Hee LEE
Author Information
1. Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. miumiu@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Cutis laxa;
Kinky hair;
Menkes disease;
Pili torti
- MeSH:
Adenosine Triphosphatases;
Aneurysm;
Connective Tissue;
Copper;
Cutis Laxa;
Diverticulum;
Early Diagnosis;
Hair;
Hair Diseases;
Humans;
Hypopigmentation;
Joint Instability;
Menkes Kinky Hair Syndrome;
Skin;
Urinary Bladder
- From:Korean Journal of Dermatology
2012;50(10):891-895
- CountryRepublic of Korea
- Language:Korean
-
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.
