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Revista Colombiana de Reumatología (English Edition)
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Case report
DOI: 10.1016/j.rcreue.2016.06.004
Camurati–Engelmann disease: case report and review of literature
Enfermedad de Camurati-Engelmann: reporte de un caso y revisión de la literatura
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Juan Pablo Restrepoa,
Corresponding author
jprestrepo@lycos.com

Corresponding author.
, María del Pilar Molinab
a Internista-Reumatólogo, Colombia
b Universidad Médica Laboral, Colombia
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Table 1. Main causes of sclerosing bone diseases.
Abstract

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

La enfermedad de Camurati-Engelmann es una entidad poco común debida a mutaciones en el gen que codifica el TGF-β. Se caracteriza por hiperostosis de huesos largos y cráneo, acompañada de dolor óseo intenso, ocasionalmente debilidad muscular, marcha de pato. El tratamiento se basa en el uso de glucocorticoides en dosis altas y en casos severos la descompresión quirúrgica está indicada. Desde nuestro conocimiento este es el primer caso reportado en Colombia.

Palabras clave:
Displasia diafisiaria
Factor de crecimiento transformante beta
Hiperostosis

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