Abstract

RESTREPO, Juan Pablo  and  MOLINA, María del Pilar. Camurati-Engelmann disease: case report and review of literature. Rev.Colomb.Reumatol. [online]. 2016, vol.23, n.3, pp.218-222. ISSN 0121-8123.  https://doi.org/10.1016/j.rcreu.2016.03.002.

Camurati-Engelmann disease is a rare entity due to mutations in the gene encoding the TGF-(3. It is characterised by hyperostosis of long bones and skull, accompanied by severe bone pain, and occasionally muscular weakness and a waddling gait. The treatment is based on the use of high doses of glucocorticoids, and in severe cases surgical decompression is indicated. As far as we know, this is the first case reported in Colombia.

Keywords : Diaphyseal dysplasia; Transforming growth factor beta; Hyperostosis.

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