Fibrodysplasia Ossificans Progressiva: A rare case series
Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals. Activating mutation of ACVR1, a bone morphogenetic protein receptor causes ossification of extra-skeletal structures like ligaments, tendons, and...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-12-01
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| Series: | Journal of Orthopaedic Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2773157X23000656 |
| _version_ | 1827590956406276096 |
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| author | Lokesh kumar Sekaran Nirosha Ponnuraj Vijayaraja Elangovan Dheepan Kumar Sakthimohan |
| author_facet | Lokesh kumar Sekaran Nirosha Ponnuraj Vijayaraja Elangovan Dheepan Kumar Sakthimohan |
| author_sort | Lokesh kumar Sekaran |
| collection | DOAJ |
| description | Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals. Activating mutation of ACVR1, a bone morphogenetic protein receptor causes ossification of extra-skeletal structures like ligaments, tendons, and aponeurosis. The characteristic findings are bilateral hallux valgus since birth and heterotopic ossification involving axial musculature beginning in the first decade of life. Diagnosis is based on the above clinical findings and radiographs or the identification of ACVR1 mutation by genetic analysis. There is no specific cure for Fibrodysplasia Ossificans Progressiva, hence prevention and treatment of flare-ups with corticosteroids, NSAID, COX2 inhibitors, and avoidance of intramuscular injections, biopsy, and surgery form the mainstay of management. Case presentation: We report 3 children a 11 year old boy, a 3 year girl and a 3 year boy with classical clinical and radiological features of Fibrodysplasia Ossificans Progressiva, two of them were misdiagnosed initially which led to exacerbation. Conclusion: Good clinical knowledge and a high index of suspicion are essential to diagnose and manage this potentially lethal and disabling condition. |
| first_indexed | 2024-03-09T01:25:01Z |
| format | Article |
| id | doaj.art-070d0f2502c0491a9e66caba42d6be9c |
| institution | Directory Open Access Journal |
| issn | 2773-157X |
| language | English |
| last_indexed | 2024-03-09T01:25:01Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Orthopaedic Reports |
| spelling | doaj.art-070d0f2502c0491a9e66caba42d6be9c2023-12-10T06:19:29ZengElsevierJournal of Orthopaedic Reports2773-157X2023-12-0124100193Fibrodysplasia Ossificans Progressiva: A rare case seriesLokesh kumar Sekaran0Nirosha Ponnuraj1Vijayaraja Elangovan2Dheepan Kumar Sakthimohan3Department of Orthopaedics, Velammal Medical College Hospital and Research Institute, Madurai, India; Corresponding author.Department of Pediatrics, Velammal Medical College Hospital and Research Institute, Madurai, IndiaDepartment of Orthopaedics, Velammal Medical College Hospital and Research Institute, Madurai, IndiaDepartment of Orthopaedics, Velammal Medical College Hospital and Research Institute, Madurai, IndiaBackground: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals. Activating mutation of ACVR1, a bone morphogenetic protein receptor causes ossification of extra-skeletal structures like ligaments, tendons, and aponeurosis. The characteristic findings are bilateral hallux valgus since birth and heterotopic ossification involving axial musculature beginning in the first decade of life. Diagnosis is based on the above clinical findings and radiographs or the identification of ACVR1 mutation by genetic analysis. There is no specific cure for Fibrodysplasia Ossificans Progressiva, hence prevention and treatment of flare-ups with corticosteroids, NSAID, COX2 inhibitors, and avoidance of intramuscular injections, biopsy, and surgery form the mainstay of management. Case presentation: We report 3 children a 11 year old boy, a 3 year girl and a 3 year boy with classical clinical and radiological features of Fibrodysplasia Ossificans Progressiva, two of them were misdiagnosed initially which led to exacerbation. Conclusion: Good clinical knowledge and a high index of suspicion are essential to diagnose and manage this potentially lethal and disabling condition.http://www.sciencedirect.com/science/article/pii/S2773157X23000656Heterotrophic ossificationHallux valgusACVR1 |
| spellingShingle | Lokesh kumar Sekaran Nirosha Ponnuraj Vijayaraja Elangovan Dheepan Kumar Sakthimohan Fibrodysplasia Ossificans Progressiva: A rare case series Journal of Orthopaedic Reports Heterotrophic ossification Hallux valgus ACVR1 |
| title | Fibrodysplasia Ossificans Progressiva: A rare case series |
| title_full | Fibrodysplasia Ossificans Progressiva: A rare case series |
| title_fullStr | Fibrodysplasia Ossificans Progressiva: A rare case series |
| title_full_unstemmed | Fibrodysplasia Ossificans Progressiva: A rare case series |
| title_short | Fibrodysplasia Ossificans Progressiva: A rare case series |
| title_sort | fibrodysplasia ossificans progressiva a rare case series |
| topic | Heterotrophic ossification Hallux valgus ACVR1 |
| url | http://www.sciencedirect.com/science/article/pii/S2773157X23000656 |
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