From hallux valgus to spinal rigidity: Importance of an early clinical suspicion of Fibrodysplasia ossificans progressiva.

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Abstract

Background: Fibrodysplasia ossificans progressiva (FOP) is a disease characterized by endochondral-progressive heterotopic ossification of skeletal muscle and connective tissue, leading to skeletal deformities, chronic pain, impaired growth, and stiffness. FOP affects patients' quality of life who also do not have effective treatment. Early clinical suspicion and early diagnosis make it possible to avoid situations that favor the progression of the disease and mitigate the iatrogenic damage generated by intervening in patients with this condition. Case report: Fourteen-year-old male patient presented a bilateral hallux valgus deformity at two years, which was operated on one year later. Additionally, due to recurrent episodes of otitis media, at age 7, he was operated on with a right tympanoplasty with ventilation tubes. At ten years old, he presented a dorsal trauma with subsequent appearance of a mass with progressive growth that limited cervical mobility, for which imaging studies were taken that showed cervical vertebral fusions. Due to the history, a genetic study of the ACVR1 gene was performed, confirming the FOP diagnosis. Conclusions: The early diagnostic suspicion of FOP based on clinical findings, mainly in the deformities of the great toes of the feet, becomes the starting point of the prevention strategy in FOP, together with the limitation of invasive interventions, which significantly impacts the quality and prognosis of life of these patients.

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From hallux valgus to spinal rigidity: Importance of an early clinical suspicion of Fibrodysplasia ossificans progressiva. (2022). Pediatría, 54(Suplemento 1), 3–9. https://doi.org/10.14295/rp.v54iSuplemento1.348
Section
Case report

References

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