title: Alkaptonuria and ochronosis: case report and review.
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.
authors.affiliation: Department of Internal Medicine, University of South Florida College of Medicine, Tampa 33612.
authors.forename: S E
authors.initials: SE
authors.lastname: Albers
authors.forename: S J
authors.initials: SJ
authors.lastname: Brozena
authors.forename: L F
authors.initials: LF
authors.lastname: Glass
authors.forename: N A
authors.initials: NA
authors.lastname: Fenske
mesh_terms: 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