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Pediatría (Asunción)
versión On-line ISSN 1683-9803
Resumen
STORM, Saida; MARTINEZ, Gloria y GODOY, Laura. Progressive ossifying fibrodysplasia. Case report and literature review. Pediatr. (Asunción) [online]. 2020, vol.47, n.1, pp.44-47. ISSN 1683-9803. https://doi.org/10.31698/ped.47012020008.
Progressive ossifying fibrodysplasia (POF) is a connective tissue disease of unknown etiology, of autosomal dominant inheritance characterized by progressive calcifications of fasciae, aponeurosis, ligaments, tendons, and interstitial connective tissue of skeletal muscle. Its prevalence is 1: 2,000,000. Abnormal morphology of the first metatarsal is present at birth. Heterotopic ossifications usually become apparent only about 5 years after a soft tissue trauma. The functional compromise is progressive and highly disabling.
We present the case of a 6-year-old boy who, beginning at one year of age, developed the lesiones in injured areas, with subsequent petrification, initially accompanied by pain and inflammatory signs. He presented bilateral short hallux valgus and we corroborated the presence of the same malformation in a maternal uncle.
Palabras clave : Ossifying fibrodysplasia; hallux Valgus; heterotopic ossification; Pediatrics.