Tendon involvement in patients with ochronosis: an ultrasonographic study
Department of Clinical Medicine and Immunological Sciences, Section of Rheumatology, University of Siena, Siena, Italy
Correspondence to:
Georgios Filippou, Department of Clinical Medicine and Immunological Sciences, Section of Rheumatology, Policlinico le Scotte, viale Bracci 53100, Siena, Italy; g_filippou@virgilio.it
Accepted 8 February 2008
| The first 150 words of the full text of this article appear below. |
Ochronosis is the musculoskeletal manifestation of alcaptonuria, a rare autosomal recessive disorder with an estimated prevalence of below 1:250 000.1 Alcaptonuria is associated with deficient homogentisate 1,2-dioxygenase (HGO) activity in the liver,2 causing production of large quantities of homogentisic acid (HGA). In urine and tissues, HGA oxidises to benzoquinones, which in turn form melanin-like polymers. Tendons are sites of ochronotic pigment deposition because of their high collagen content.3 Several cases of tendon and ligament ruptures in alcaptonuria have been reported.1 4 5 To our knowledge, no studies have been carried out regarding tendon pathology in ochronosis. Ultrasonography (US) is an inexpensive, repeatable, non-invasive exam that permits accurate visualisation of tendons and ligaments. Our aim was to evaluate tendon involvement in ochronosis.
Seven patients from six different families were enrolled in the study (three males, four females; mean age 55 years, range 47–67 years). US examination was performed by an experienced sonographer, specialised
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