Enfermedad de Camurati-Engelmann: reporte de un caso y revisión de la literatura

Camurati-Engelmann disease is a rare entity due to mutations in the gene encoding the TGF-β. 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.