A Case of Menkes' Disease.

DOI 17 References
  • TOMITA Yasushi
    Department of Dermatology, Tohoku University, School of Medicine
  • YOSHIMURA Tatsuo
    Department of Dermatology, Tohoku University, School of Medicine
  • KONDO Yoshiaki
    Department of Pediatrics, Tohoku University, School of Medicine
  • IGARASHI Hiroshi
    Department of Pediatrics, Tohoku University, School of Medicine
  • ITO Shosuke
    Institute for Comprehensive Medical Science, School of Medicine Fujita Gakuen University

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Other Title
  • メンケス病　とくに皮膚症状である捻転毛と白毛について
  • —とくに皮膚症状である捻転毛と白毛について—

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We report a case of Menkes’ disease which is known to be a copper deficiency condition demonstrating various clinicopathologic features. The patient was a 6-month-boy with low levels of serum copper and ceruloplasmin as well as typical symptoms such as poor feeding, impaired weight gain, and coarse stubby hair with abnormalities of the pili torti and white hair. The amount of eu- and pheo-melanin in his bright hair was about a half that found in normal Japanese hair, which suggests that the activity of tyrosinase, a copper enzyme, probably decreased due to a copper deficiency.

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