Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification

被引:3
|
作者
Kotb, Mohammed Mostafa [1 ]
Omar, Usama Farghaly [2 ]
Kaliya-Perumal, Arun-Kumar [3 ]
机构
[1] Assiut Univ, Dept Orthoped & Traumatol, Reconstruct Microsurg Unit, Sch Med, Assiut 71526, Egypt
[2] Khoo Teck Puat Hosp, Dept Orthopaed Surg, Hand & Reconstruct Microsurg Serv, Singapore 768828, Singapore
[3] Nanyang Technol Univ, Lee Kong Chian Sch Med, Singapore 636921, Singapore
关键词
fibrodysplasia ossificans progressiva; heterotopic ossification; ectopic bone; stone man syndrome; myositis ossificans; MANAGEMENT;
D O I
10.3390/diagnostics13101711
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:6
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