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Alkaptonuria and ochronosis: case report and review
S E Albers1, S J Brozena, L F Glass
1Department of Internal Medicine, University of South Florida College of Medicine, Tampa 33612.
Journal of the American Academy of Dermatology
|October 1, 1992
Abstract:
Alkaptonuria is a rare genetic disorder in which the enzyme homogentisic acid oxidase is deficient, resulting in the accumulation of homogentisic acid in various bodily tissues. This is a multisystem disorder with a characteristic blue-black discoloration of the skin and cartilage, which is termed ochronosis. Herein we report a profound case of ochronosis secondary to alkaptonuria. Furthermore, we review the clinical manifestations of alkaptonuria and discuss the spectrum of ochronosis, both endogenous and exogenous.