Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder characterized by the progressive formation of heterotopic bone in soft tissues. Here, we present the radiological findings of an 18-year-old female diagnosed with FOP who had severe spinal and right-upper-limb abno...
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| Format: | Article |
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MDPI AG
2023-05-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/10/1711 |
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| author | Mohammed Mostafa Kotb Usama Farghaly Omar Arun-Kumar Kaliya-Perumal |
| author_facet | Mohammed Mostafa Kotb Usama Farghaly Omar Arun-Kumar Kaliya-Perumal |
| author_sort | Mohammed Mostafa Kotb |
| collection | DOAJ |
| description | Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder characterized by the progressive formation of heterotopic bone in soft tissues. Here, we present the radiological findings of an 18-year-old female diagnosed with FOP who had severe spinal and right-upper-limb abnormalities. Her SF-36 scores suggested significant impairment in physical function, affecting work and other regular daily activities. Radiographic evaluation with X-rays and CT scans revealed scoliosis and total fusion of almost all levels of the spine, with only a few disc spaces spared. A large mass of heterotopic bone was observed, corresponding to the location of the paraspinal muscles in the lumbar region, branching upwards and fusing with the scapulae on both sides. On the right side, this exuberant heterotopic bone mass fused with the humerus, resulting in a fixed right shoulder, while the rest of the upper and lower limbs are spared and have a range of motion. Our report highlights the extensive ossification that can manifest in patients with FOP, resulting in restricted mobility and a poor quality of life. While there is no definite treatment that can reverse the effects of the disease, preventing injuries and minimizing iatrogenic harm is of critical importance in this patient as inflammation is known to play a key role in triggering heterotopic bone. Meanwhile, ongoing research into therapeutic strategies holds the key to unlocking a potential cure for FOP in the future. |
| first_indexed | 2024-03-11T03:48:46Z |
| format | Article |
| id | doaj.art-7d0a7fb77dc7492495e1c129d383d86a |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T03:48:46Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-7d0a7fb77dc7492495e1c129d383d86a2023-11-18T01:03:56ZengMDPI AGDiagnostics2075-44182023-05-011310171110.3390/diagnostics13101711Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic OssificationMohammed Mostafa Kotb0Usama Farghaly Omar1Arun-Kumar Kaliya-Perumal2Department of Orthopedics and Traumatology, Reconstructive Microsurgery Unit, Assiut University School of Medicine, Assiut 71526, EgyptDepartment of Orthopaedic Surgery, Hand and Reconstructive Microsurgery Service, Khoo Teck Puat Hospital, Singapore 768828, SingaporeLee Kong Chian School of Medicine, Nanyang Technological University, Singapore 636921, SingaporeFibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder characterized by the progressive formation of heterotopic bone in soft tissues. Here, we present the radiological findings of an 18-year-old female diagnosed with FOP who had severe spinal and right-upper-limb abnormalities. Her SF-36 scores suggested significant impairment in physical function, affecting work and other regular daily activities. Radiographic evaluation with X-rays and CT scans revealed scoliosis and total fusion of almost all levels of the spine, with only a few disc spaces spared. A large mass of heterotopic bone was observed, corresponding to the location of the paraspinal muscles in the lumbar region, branching upwards and fusing with the scapulae on both sides. On the right side, this exuberant heterotopic bone mass fused with the humerus, resulting in a fixed right shoulder, while the rest of the upper and lower limbs are spared and have a range of motion. Our report highlights the extensive ossification that can manifest in patients with FOP, resulting in restricted mobility and a poor quality of life. While there is no definite treatment that can reverse the effects of the disease, preventing injuries and minimizing iatrogenic harm is of critical importance in this patient as inflammation is known to play a key role in triggering heterotopic bone. Meanwhile, ongoing research into therapeutic strategies holds the key to unlocking a potential cure for FOP in the future.https://www.mdpi.com/2075-4418/13/10/1711fibrodysplasia ossificans progressivaheterotopic ossificationectopic bonestone man syndromemyositis ossificans |
| spellingShingle | Mohammed Mostafa Kotb Usama Farghaly Omar Arun-Kumar Kaliya-Perumal Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification Diagnostics fibrodysplasia ossificans progressiva heterotopic ossification ectopic bone stone man syndrome myositis ossificans |
| title | Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification |
| title_full | Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification |
| title_fullStr | Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification |
| title_full_unstemmed | Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification |
| title_short | Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification |
| title_sort | living with fibrodysplasia ossificans progressiva radiological images of a patient with extensive heterotopic ossification |
| topic | fibrodysplasia ossificans progressiva heterotopic ossification ectopic bone stone man syndrome myositis ossificans |
| url | https://www.mdpi.com/2075-4418/13/10/1711 |
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