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Rheumatology International
Published in: Rheumatology International 5/2008

01-03-2008 | Case Report

Ochronosis with cardiovascular involvement: a case report

Authors: Serpil Bal, Yasemin Turan, Hikmet Koçyiğit, Alev Gürgan, Şükran Kurtulmuş, Anıl Güvenç, Gonca Deniz

Published in: Rheumatology International | Issue 5/2008

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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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Metadata
Title
Ochronosis with cardiovascular involvement: a case report
Authors
Serpil Bal
Yasemin Turan
Hikmet Koçyiğit
Alev Gürgan
Şükran Kurtulmuş
Anıl Güvenç
Gonca Deniz
Publication date
01-03-2008
Publisher
Springer-Verlag
Published in
Rheumatology International / Issue 5/2008
Print ISSN: 0172-8172
Electronic ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-007-0456-9

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