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 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.
Bal
Serpil
S
Department of Physical Medicine and Rehabilitation, Atatürk Training and Research Hospital, Izmir, Turkey. serpilbal@gmail.com
Turan
Yasemin
Y
Koçyiğit
Hikmet
H
Gürgan
Alev
A
Kurtulmuş
Sükran
S
Güvenç
Anil
A
Deniz
Gonca
G
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