Abstract
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.
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Bal, S., Turan, Y., Koçyiğit, H. et al. Ochronosis with cardiovascular involvement: a case report. Rheumatol Int 28, 479–482 (2008). https://doi.org/10.1007/s00296-007-0456-9
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DOI: https://doi.org/10.1007/s00296-007-0456-9