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Ochronosis

Case contributed by Prashant Mudgal
Diagnosis probable

Presentation

Elderly patient presented with non-specific symptoms like chronic backache and arthralgia. O/e his pinna, ear lobule and nose were pigmented.

Patient Data

Age: 80 year
Gender: Male
x-ray

There are multiple intervertebral disc calcification at different intervertebral levels with disc space narrowing and syndesmophyte formation and scoliosis.

Subchondral sclerosis and irregular and asymmetrical joint space narrowing at bilateral hip joints.

Narrowing of bilateral sacroiliac joint spaces.

Case Discussion

Ochronosis (or alkaptonuria) refers to the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria due to  to excessive build up of homogentisic acid (HGA) which  binds to collagen in connective tissue and making it weak and brittle with time, leading to chronic inflammation, degeneration, and osteoarthrosis (progressive arthropathy).

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