Senile-onset ochronosis

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...

Knee osteoarthrosis secondary to ochronosis – clinical case☆☆☆

Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as a chestnut brown or black pigmentation. With aging, the accumulation of pigments from homogentisic acid in the joints causes osteoarthrosis. Th...

Alkaptonuric ochronosis: a case report.

Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase (alkaptonuria). Ultimately, this enzyme deficiency enables homogentisic acid to accumulate, become polymerized, and be systemically deposited within various tissues of the body (ochronosis). As the disease progresses, tissue deposition of polymerized homogentisic acid ...

Achilles tendon enthesopathy in ochronosis.