Back issues No.2 - 2003 / Case Report  

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Menkes’ Kinky Hair Syndrome—Report of One Case Treated with Copper-Histidine
Mei-Ching Lee, Yea-Huei Chuang , Hong-Shang Hone
Dermatol Sinica 21 : 192-197, 2003

Menkes’ kinky hair syndrome(MKHS) is a rare x-linked recessive disorder of copper metabolism. We report an 8-month-old male infant with MKHS. Seizures and growth retardation developed since the first few months of his life. Physical examination showed generalized pale skin, puffy face, and sparse, brittle, light-colored, kinky hairs. Blood tests showed low levels of serum copper and ceruloplasmin. Light microscopic examination of the hairs revealed findings of trichorrhexis nodosa. Excessive weathering with hair fracture and node formation was found under the scanning electron microscope. After daily subcutaneous administration of copper-histidine 0.5 mg for 3 months, skin and hair color improved. However, the mental and neurologic impairment still persisted.

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