Ochronosis with cardiovascular involvement: a case report.

Rheumatology International

PubMedID: 17899092

Bal S, Turan Y, Koçyigit H, Gürgan A, Kurtulmus S, Güvenç A, Deniz G. Ochronosis with cardiovascular involvement: a case report. Rheumatol Int. 2008;28(5):479-82.
Ochronosis is a rare autosomal-recessive disease, characterized by increased homogentisic acid (HGA) and substrates due to deficiency of HGA oxidase. The most common clinical presentations are homogentisic aciduria, blue-black pigment accumulation in collagen tissues, large joint arthropathies and degenerative disk diseases. However, the disease may exert very large spectrum with various system involvements. In this article, a patient who was admitted by progressed musculoskeletal system pains and diagnosed as ochronosis, especially with emerging cardiovascular involvement, was presented.