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    Rheumatol Int. 2008 Mar;28(5):479-82. Epub 2007 Sep 25.

    Ochronosis with cardiovascular involvement: a case report.

    Bal S, Turan Y, Koçyiğit H, Gürgan A, Kurtulmuş S, Güvenç A, Deniz G.

    Source

    Department of Physical Medicine and Rehabilitation, Atatürk Training and Research Hospital, Izmir, Turkey. serpilbal@gmail.com

    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.

    PMID:
    17899092
    [PubMed - indexed for MEDLINE]

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