Fibrodysplasia ossificans progressiva
- PMID: 37942184
- PMCID: PMC10628188
- DOI: 10.1002/ccr3.8165
Fibrodysplasia ossificans progressiva
Abstract
Key clinical message: Fibrodysplasia ossificans progressiva is a progressively debilitating condition associated with significant morbidity caused by heterotopic ossification. Recognition of the early signs of hallux valgus and painful soft tissue nodules can assist in the early diagnosis of this condition. Periodic radiographic examination is mandatory to monitor the disease progression.
Abstract: Fibrodysplasia ossificans progressiva is a rare condition with an estimated prevalence of one in two million individuals. The condition is characterized by widespread heterotrophic ossification of skeletal muscles and ligaments. We report the case of an 8-year-old female patient and show the radiological progression of the condition.
Keywords: cone‐beam computed tomography; heterotopic ossification.
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Conflict of interest statement
The authors declare that they have no conflict of interest.
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References
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- Furuya H, Ikezoe K, Wang L, et al. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H) Hirokazu. Am J Med Genet. 2008;146A(4):459‐463. - PubMed
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- Kaplan FS, Groppe JC, Xu M, et al. An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva. Am J Med Genet A. 2022;188(3):806‐817. - PubMed
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