A Case of Menkes' Disease

Abstract

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. © 1992, Western Division of Japanese Dermatological Association. All rights reserved.