title: Ochronosis with cardiovascular involvement: a case report.
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.
authors: Department of Physical Medicine and Rehabilitation, Atatürk Training and Research Hospital, Izmir, Turkey. serpilbal@gmail.com
authors: Serpil
authors: S
authors: Bal
authors: Yasemin
authors: Y
authors: Turan
authors: Hikmet
authors: H
authors: Koçyiğit
authors: Alev
authors: A
authors: Gürgan
authors: Sükran
authors: S
authors: Kurtulmuş
authors: Anil
authors: A
authors: Güvenç
authors: Gonca
authors: G
authors: Deniz
mesh_terms: D054537:Atrioventricular Block / Q000150:complications*; D002114:Calcinosis / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications*; D007403:Intervertebral Disc / Q000473:pathology; D008875:Middle Aged; D009794:Ochronosis / Q000150:complications*; D013122:Spinal Diseases / Q000209:etiology / Q000473:pathology