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Case Report

A Rare Case Report of Ochronotic Arthritis

Balasundararajan Uma* , Balasundararajan Uma* , Ganapathy Shivashekar** , Kalaivani Amit Kumar*** , Bhuvanamha Devi Ramamurthy****

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Indian Journal of Pathology: Research and Practice 6(2 (Part-1)):p 330-333, January - June 2017. | DOI: DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.6217.30

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Abstract

Introduction: Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting from deficiency of homogentisic acid oxidase enzyme leading to deposition of homogentisic acid in various tissues of the body (ochronosis). The most common clinical features are arthritic changes in weight-bearing joints, lumbosacral degenerative disc disease, dark brown discoloration of urine on air exposure, ocular and cutaneous pigmentation, coronary and valvular calcification and renal calculi formation. Histopathological examination from cutaneous/bony lesion is confirmatory. Case History: 52 year old female sustained a stress fracture of the right femoral neck, necessitating surgical repair, which showed black pigmentation of the femoral head and glenoid labrum. On examination pigmentation of the sclera and ear lobe was also noted. Further work up and histopathological examination with histochemistry confirmed it as a case of Ochronotic arthritis. Conclusion: The case is being presented for its rarity.

Keywords: Ochronosis; Homogetisic Acid Oxidase

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DOI: DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.6217.30

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