DOI: 10.36347/sjmcr.2017.v05i03.011

Pages: 165-167

Alkaptonuria is a rare genetic autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase which causes 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.