Ochronosis in a Young Female-A Rare Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2017, Vol 5, Issue 3
Abstract
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. Keywords: ochronosis, Alkaptonuria, metabolic disorder, genetic disorder.
Authors and Affiliations
Dr. Madhavi Shrivastava, Dr. Fakeha Firdous, Dr. Ch V Ramana Murty, Dr. Jaweria .
Keywords
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