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Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
Ipanshu Malik1, S C Sharma1, Mahipal Ajitsinh Padhiyar1
1Department of Orthopaedics, SGT Medical College Hospital and Research Institute, Gurugram, Haryana, India.
Journal of Orthopaedic Case Reports
|April 4, 2023
Summary
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing bone to form in connective tissues. Early diagnosis and preventative care are crucial for managing this progressive condition.
Area of Science:
- Genetics
- Medical Research
- Rare Diseases
Background:
- Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant genetic disorder characterized by heterotopic ossification.
- Affecting one in ten million births, FOP often leads to delayed diagnosis and misdiagnosis due to its rarity and progressive nature.
Observation:
- This article presents three female cases of FOP across different age groups.
- Clinical presentation included multiple non-tender paravertebral lumps and bilateral hallux valgus.
- Radiographic examination revealed soft tissue ossification in the spine and neck.
Findings:
- The cases highlight the diagnostic challenges associated with FOP.
- Conservative treatment approaches were employed.
- Preventative strategies for flare-ups were discussed.
Implications:
- Early diagnosis of FOP is critical due to its progressive and often misdiagnosed nature.
- Long-term physiotherapy and prevention of muscle trauma are recommended to delay disability.
- This case series underscores the importance of recognizing FOP's distinct clinical and radiographic features.
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