There was no ochronotic
findings in the other members of the family.
However, pathological tissue pigmentation is occasionally induced under several specific conditions, including ochronotic
arthritis accompanied by alkaptonuria [1-3], haemosiderosis , and the use of drugs for Parkinson's disease [5, 6] or antibiotics [7-9].
AKU is caused by the deficiency of the homogentisate 1,2-dioxygenase enzyme which results in excretion of large quantities of homogentisic acid (HGA) in the urine and a slowly progressive deposition of HGA and its oxidative product in cartilage, intervertebral disk and other connective tissues, leading to ochronotic
Antiresorptive drugs such as alendronate and ibandronic acid are not proven to benefit in ochronotic
spine with osteopenia.
The differential diagnosis includes iron and ochronotic
The management of ochronotic
arthropathy is usually conservative, but replacement surgery must be offered for severely affected major joints.
The major clinical manifestations of the disease are dark urine, usually present at birth, ochronosis (blue-dark pigmentation of connective tissues), and ochronotic
arthropathy, which especially affects the large weight-bearing joints and spine and typically appears after the age of thirty.
Aortotomy revealed typical ochronotic
pigmentation of a severely calcified aortic valve and aortic intima.
Alkaptonuria causes progressive ochronotic
arthropathy of the large weightbearing joints (knees, hips, shoulders, vertebrae).
arthritis: Case reports and review of the literature.
Studies on ochronosis: a report of a case with death from ochronotic
If these deposits are ochronotic
, one must then wonder what role they played in the discoloration of the skin.