Background Ochronosis is a musculoskeletal manifestation of alcaptonuria, a rare hereditery metabolic disorder characterised by the absence of the enzyme homogentisic acid oxidase and associated with various systemic abnormalites related to the deposition of homogentisic acid pigment.
Objectives We aimed to review a case with ochronosis, a disorder of rare and multisystemic involvement, in the light of literature.
Methods A housewife, 53 years of age, was admitted to our clinic with complaints of low back and left shoulder pains. Due to low-back pain complaints, she was operated on two times with diagnosis of lumbar discal hernia.
Results The radiographic appearance in the lumbar spine of the patients was almost pathogonomic of ochronotic spondyloartropathy. Thypical water-like calcifications were seen in the intervertebral discs, with narrowing of disc spaces and osteoporotic rarefaction of the vertebral bodies. Shoulder joint, narrowing of the joint space, a marked subchondral sclerosis, and small osteophytes were observed; similarly, knee, sacroiliac joints and symphysis pubis show at narrowing of the joint spaces and subchondral bone sclerosis.
In the eyes of the patient, ochronotic pigmentation was seen by light microscopy. The blue-black pigmentation was bilateral and asymmetric in the cornea, conjunctiva and sclera. In addition, black-grey pigmentation was present in the ear cartilage and hand nails. In the laboratory test, homogentisic acid was found increase (2740 mmol HjA/mmol creatinin; N: 10 mmol HjA/mmol) creatinin in urine.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.