A 45-year-old man presented with low back pain evolving since 8 years associated sometimes with a radicular radiation. The clinical examination found a patient in good general condition, a loss of the lumbar lordosis, an exaggeration of the dorsal kyphosis with stiffness of the lumbar spine. The cutaneous-mucosal examination showed a brownish appearance of the ears, conjunctiva, and lower eyeli...

Ochronotic arthropathy is a manifestation of longstanding alkaptonuria. With increasing age, an accumulation of pigment deposits of homogentisic acid in the joint cartilage results in ochronotic osteoarthritis. We present a case of a 62-year-old female who underwent staged left uncemented total hip and right cemented total knee arthroplasty for osteoarthritis secondary to ochronosis.

Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alk...

A 63-year-old man bearing most signs and symptoms (facial pigmentation, degenerative arthritis, and dark urine) pertinent to his known history of alkaptonuria underwent aortic valve replacement for critical aortic stenosis. Although rare, aortic stenosis is the most common cardiac manifestation of alkaptonuric ochronosis.

Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...