Joint Involvement in Ochronosis

Ochronosis of hip joint; a case report

BACKGROUND Ochronosis is connective tissue manifestation of Alkaptonuria. Joint involvement specially hip and knee destruction is seen. The cartilage is pigmented and destroyed. It is interested for both pathologists and orthopedic surgeons. CASE PRESENTATION A 54 years old woman with hip fracture after simple falling is candidate for surgery, but, after skin and subcutaneous incision over de...

Alkaptonuric Ochronosis.

Alkaptonuria is an autosomal recessive metabolic disorder characterized by joints and spine involvement, ochronosis and presence of homogentisic acid in urine and its deposition in cartilage, intervertebral disc and other connective tissues, leading to disabling arthritis in elderly individual.

Cutaneous Markers in Ochronosis

Sir, A 40-year-old woman presented with low backache of five-year duration with pain in the knee, shoulder and ankle joints on both sides. On examination she was found to have thickened ear lobule with restricted mobility of pinna [Figure 1]. There was black pigmentation in the palmar aspect of the right index finger [Figure 2]. She also had hyperpigmented plaques with adherent scales in the le...

Development of an in vitro model to investigate joint ochronosis in alkaptonuria.

OBJECTIVES Alkaptonuria (AKU) is a genetic disorder caused by lack of the enzyme responsible for breaking down homogentisic acid (HGA), an intermediate in tyrosine metabolism. HGA is deposited as a polymer, termed ochronotic pigment, in collagenous tissues. Pigmentation is progressive over many years, leading to CTDs including severe arthropathies. To investigate the mechanism of pigmentation a...

Achilles tendon enthesopathy in ochronosis.