Ochronosis with cardiovascular involvement: a case report

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 d...

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Bibliographic Details
Published in:Rheumatology international 2008-03, Vol.28 (5), p.479-482
Main Authors: Bal, Serpil, Turan, Yasemin, Koçyiğit, Hikmet, Gürgan, Alev, Kurtulmuş, Şükran, Güvenç, Anıl, Deniz, Gonca
Format: Article
Language:English
Subjects:
Atrioventricular Block - complications
Calcinosis - etiology
Calcinosis - pathology
Case Report
Female
Humans
Hypertrophy, Left Ventricular - complications
Intervertebral Disc - pathology
Medicine
Medicine & Public Health
Middle Aged
Musculoskeletal system
Ochronosis - complications
Rheumatology
Spinal Diseases - etiology
Spinal Diseases - pathology
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Summary: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.
ISSN:0172-8172
1437-160X
DOI:10.1007/s00296-007-0456-9