From hallux valgus to spinal rigidity: Importance of an early clinical suspicion of Fibrodysplasia ossificans progressiva.
Article Sidebar
Main Article Content
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.
Downloads
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Creative Commons
License Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
You are free to:
Share - copy and redistribute the material in any medium or format.
Adapt - remix, transform, and build upon the material The licensor cannot revoke these freedoms as long as you follow the license terms.
• Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
• NonCommercial — You may not use the material for commercial purposes.
• ShareAlike — If you remix, transform, or build upon the material, you must distribute your contributions under the same license as the original.
• No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
References
Kamal AF, Novriansyah R, Rahyussalim, Prabowo Y, Siregar NC. Fibrodysplasia Ossificans Progressiva: Difficulty in Diagnosis and Management A case report and literature review. J Orthop Case Rep. 2015;5(1):26-30.
Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis. 1 de diciembre de 2011;6:80.
Miao J, Zhang C, Wu S, Peng Z, Tania M. Genetic abnormalities in fibrodysplasia ossificans progressiva. Genes Genet Syst. 2012;87(4):213-9.
The genetics of fibrodysplasia ossificans progressiva | SpringerLink [Internet]. [citado 14 de octubre de 2021]. Disponible en: https://link.springer.com/article/10.1385/BMM:3:3-4:201
Qi Z, Luan J, Zhou X, Cui Y, Han J. Fibrodysplasia ossificans progressiva: Basic understanding and experimental models. Intractable Rare Dis Res. noviembre de 2017;6(4):242-8.
Kaplan FS, Zasloff MA, Kitterman JA, Shore EM, Hong CC, Rocke DM. Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am. marzo de 2010;92(3):686-91.
Lin H, Shi F, Gao J, Hua P. The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator. Biosci Rep. 2 de agosto de 2019;39(8):BSR20190377.
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho T-J, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. mayo de 2006;38(5):525-7.
Hino K, Ikeya M, Horigome K, Matsumoto Y, Ebise H, Nishio M, et al. Neofunction of ACVR1 in fibrodysplasia ossificans progressiva. Proc Natl Acad Sci U S A. 15 de diciembre de 2015;112(50):15438-43.
Gannon FH, Glaser D, Caron R, Thompson LDR, Shore EM, Kaplan FS. Mast cell involvement in fibrodysplasia ossificans progressiva (FOP). Hum Pathol. 2001;32:842-8.
Kaplan FS, Mukaddam MA, Baujat G, Brown M, Cali A, Cho T-J, et al. The medical management of fibrodysplasia ossificans progressiva: current treatment considerations. 127.
Levy CE, Lash AT, Janoff HB, Kaplan FS. Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva. Am J Audiol. junio de 1999;8(1):29-33.
Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. marzo de 2008;22(1):191-205.
Wentworth KL, Masharani U, Hsiao EC. Therapeutic advances for blocking heterotopic ossification in fibrodysplasia ossificans progressiva. Br J Clin Pharmacol. junio de 2019;85(6):1180-7.
Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando A, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am. febrero de 1993;75(2):215-9.