Progressive fibrodysplasia osificans in pediatrics: about a clinical case

Authors

  • Lorenys Annisai Mendoza-Delgado Universidad Centroccidental Lisandro Alvarado (UCLA)
  • Mariana Alexandra Ángel-Díaz Universidad Centroccidental Lisandro Alvarado (UCLA), Venezuela.

DOI:

https://doi.org/10.5281/zenodo.20135271

Keywords:

Fibrodysplasia ossificans, Halluxvalgus, Heterotopic ossification

Abstract

Fibrodysplasia ossificans progressiva is one of the most unique and significant constitutional bone diseases, to the point of having been considered "the Mount Everest of musculoskeletal disorders of genetic origin." The scarcity of epidemiological data is a deficiency that FOP shares with all rare diseases. A clinical case is presented: an 11-year-old female adolescent, product of non-consanguineous parents, from a rural environment, with a history of cervical rectification diagnosed in the neonatal period, untreated, community-acquired pneumonia at 3 years of age, who required hospitalization for 7 days, left middle hearing loss and agenesis of the mastoid process diagnosed at 3 years by means of a brain magnetic resonance study; tonsillectomy at 5 years, without complications. SARS-CoV-2 infection in December 2021, empirically treated. Presenting, onset of the current disease in December 2021, after a mild SARS COV-2 infection, characterized by severe abdominal pain, worsening during walking, swelling of the abdominal and suprascapular muscles that limit flexion-extension is evident. cervical, its admission for multidisciplinary management is decided, in discussion, a probable diagnosis of Fibrodysplasia Ossificans Progressiva (FOP) is considered, deciding to carry out the respective bibliographic review

 

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Author Biographies

Lorenys Annisai Mendoza-Delgado, Universidad Centroccidental Lisandro Alvarado (UCLA)

Pediatra Puericultor. Residente del Posgrado de Hematología Pediátrica de la Universidad Central de Venezuela (UCV). Hospital J.M. de los Ríos.  ORCID:https://orcid.org/0000-0002-2337-4641

Mariana Alexandra Ángel-Díaz, Universidad Centroccidental Lisandro Alvarado (UCLA), Venezuela.

Pediatra Puericultor. Hospital Pediátrico Agustín Zubillaga: Barquisimeto, Lara, VE.  ORCID:https://orcid.org/0009-0004-7707-1939

References

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Kaplan, S.A., Chakkalakal, E.M. Shore. Fibrodysplasia ossificans progressiva: Mechanisms and models of skeletal metamorphosis. Dis Model Mech, 5 (2012), pp. 756-762 http://dx.doi.org/10.1242/dmm.010280

Morales-Piga A, Bachiller-Corral Francisco Javier, Sánchez-Duffhues Gonzalo. ¿Es la «fibrodisplasia osificante progresiva» una enfermedad de origen vascular? Un modelo patogénico innovador. Reumatol Clin. 2014. http://dx.doi.org/10.1016/j.reuma.2014.05.001

Kaplan FS, Tabas JA, Gannon FH, Finkel G, Hahn GV, Zasloff MA. The histopathology of fibrodysplasia ossificans progressiva. An endochondral process. JBJS.1993; 75:220–230.

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D.L. Glaser, F.S. Kaplan. Treatment considerations for the management of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab, 3 (2005), pp. 243-250

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Storm S, Martínez G, Godoy L Storm S, Martínez G, Godoy L Fibrodisplasia osificante progresiva. Reporte de un caso y revisión de la literature Pediatr. (Asunción). 2020; 47(1):44-47 (enero - abril)

María, Cases Jordán Morte Cabistany Carla, Peñalva Boronat Milagro Jiménez María, Torres María. Fibrodisplasia osificante progresiva: revisión bibliográfica. 2021, ISSN-e 2660-7085, Vol. 2, Nº. 4, 2021. Revista Sanitaria de Investigación

Published

2026-01-15

How to Cite

Mendoza-Delgado, L. A., & Ángel-Díaz, M. A. (2026). Progressive fibrodysplasia osificans in pediatrics: about a clinical case. Salud, Arte Y Cuidado, 19(1), 233-237. https://doi.org/10.5281/zenodo.20135271

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Section

Casos Clínicos

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