Bilateral Breast Ochronosis: a Case Report

ABSTRACT: Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by de...

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Bibliographic Details
Main Authors: Fatema A.J. AbdulKarim, Safwat M. Ibrahim, Arnold AD Hill, Nadeem Ajmal
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:JPRAS Open
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Online Access:http://www.sciencedirect.com/science/article/pii/S2352587821000590
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Summary:ABSTRACT: Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting in darkening of urine). More rarely, it may affect the breast. This rare and interesting case of a woman with ochronosis of both breasts and chest wall, prompted us to write this case report.
ISSN:2352-5878