A case of ochronosis: upper extremity involvement

Alkaptonuria is a rare hereditary autosomal recessive disease in which a de fect in the metabolism of homogentisic acid leads to pigmentation of the ti ssues termed ochronosis. Alkaptonuria occurs in about 1 in 200,000 individu als. Alkaptonuria itself is a symptomless condition. Clinical signs develop when pigment is deposited in cartilage [2]. Degenerative arthritis and spo ndylosis occur in the later stages [1]. We report not only the radiologic and clinical findings of the lumbar spine but also the involvement of hand and shoulder joints, which is seen rarely in ochronosis.