Alkaptonuria and ochronosis: case report and review.
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.
Albers
S E
SE
Department of Internal Medicine, University of South Florida College of Medicine, Tampa 33612.
Brozena
S J
SJ
Glass
L F
LF
Fenske
N A
NA
D000368:Aged; D000474:Alkaptonuria / Q000150:complications*; D006801:Humans; D008297:Male; D009794:Ochronosis / Q000209:etiology* / Q000473:pathology; D010859:Pigmentation Disorders / Q000209:etiology / Q000473:pathology; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology