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Scholars Journal of Medical Case Reports | Volume-5 | Issue-03
Ochronosis in a Young Female-A Rare Case Report
Madhavi Shrivastava, Fakeha Firdous, Ch V Ramana Murty, Jaweria
Published: March 30, 2017 |
192
240
DOI: 10.36347/sjmcr.2017.v05i03.011
Pages: 165-167
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Abstract
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.