Multiple tendon ruptures in ochronosis : case report and review of prophylactic therapy

Abstract

Ochronosis is dark pigmentation of connective tissue in patients with alkaptonuria. The dark pigmentation is caused by accumulation of homogentisic acid (HGA) and its metabolites in the connective tissues, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. The deposition of HGA in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Rupture of isolated tendons has been reported in many case reports in the literature. We report on a patient with multiple sequential tendon ruptures, and review the literature to see if there is a way of preventing subsequent tendon ruptures after an initial rupture in this condition.