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ochronosis

Pronunciation: o'kron-o'sis

Definition: A rare, autosomal recessive disease characterized by alkaptonuria with pigmentation of the cartilages and sometimes tissues such as muscle, epithelial cells, and dense connective tissue; may affect also the sclera, mucous membrane of the lips, and skin of the ears, face, and hands, and cause standing urine to be dark colored and contain pigmented casts; pigmentation is thought to result from oxidized homogentisic acid, and cartilage degeneration results in osteoarthritis, particularly of the spine.

[G. ochros, pale yellow, + nosos, disease]

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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