Bilateral Breast Ochronosis: a Case Report

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. (c) 2021TheAuthors. Published by Elsevier Ltd on behalf of British Association of Plastic, Reconstructive and Aesthetic Surgeons.

Automated summary

Ochronosis is a rare syndrome characterized by bluish black discoloration in connective tissues due to the deposition of polymerized products of homogentisic acid. It is associated with alkaptonuria, a rare autosomal recessive metabolic disorder, and manifests as pigmentation of skin, cartilage, and sclera. This interesting case study highlights the rare occurrence of ochronosis in a woman's breasts and chest wall.