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Bilateral Breast Ochronosis: a Case Report

Fatema A.J. AbdulKarim, Safwat M. Ibrahim, Arnold AD Hill and 1 more

JPRAS Open · 2021

doi:10.1016/j.jpra.2021.06.005 (opens in a new tab)

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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.

Abstract licence: CC BY-NC-ND

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