Abstract

SALAZAR PONCE, Rosa et al. Ochronosis: report of two familial cases, historical overview and review of the literature. Rev.Colomb.Reumatol. [online]. 2011, vol.18, n.4, pp.304-310. ISSN 0121-8123.

Ochronosis is the manifestation of alkaptonuria in the connective tissue. It is originated by the alteration in the metabolism of homogentisic acid, a product of autosomal recessive mutation of HGO, gene in the long arm of chromosome 3 (3q21-23). It is a rare disease, characterized by the presence of calcifications in the intervertebral discs and deposit of homogentisic acid in connective tissue and tendons. We present two compatibles cases with the clinical and radiological features of ochronosis.

Keywords : ochronosis; alkaptonuria; calcification in intervertebral discs.

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