Musculoskeletal manifestations of alkaptonuria

Describe the musculoskeletal and other manifestations of alkaptonuria

Degenerative joint disease occurs in the third decade of life, with typical symptoms of pain, stiffness, and a limited range of motion for the large joints and spine. The most common site involved is the spine, followed by the knees, hips, and shoulders. Peripheral joint arthritis usually occurs a decade later than for the spine. Abnormal calcification and ossification occur. Tendinitis has been reported. Dense calcification of the intervertebral discs is highly characteristic. The vacuum sign is also prominent in discs. Synovial fluid may have a characteristic ground-pepper appearance caused by pigmented cartilage fragments. It has been noted that calcium pyrophosphate deposition disease can coexist with ochronotic arthritis.

Patients with alkaptonuria have an increased prevalence of kidney stones (25% of patients) and also develop aortic valve and coronary artery calcifications. Axillary and inguinal areas may have a brownish discoloration by puberty.

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