Fibrodysplasia ossificans progressiva: a case report
Merih Önal1, M Demir Bajin, Taner Yılmaz
1Department of Otorhinolaryngology, Hacettepe University Faculty of Medicine, Ankara, Turkey. dbajin@hacettepe.edu.tr.
The Turkish Journal of Pediatrics
|May 30, 2015
Summary
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing bone to form in muscles and connective tissues. This case highlights challenges in managing FOP, especially regarding surgical decisions.
Area of Science:
- Genetics and rare diseases
- Orthopedics and musculoskeletal disorders
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling autosomal dominant disorder.
- Characterized by recurrent soft tissue swelling and progressive heterotopic ossification.
- Ectopic bone formation affects axial musculature, ligaments, fascia, tendons, and joint capsules, exacerbated by trauma.
Observation:
- A 16-year-old male presented with osseous lesions.
- Lesions originated from the left ramus mandible, extending to the sternocleidomastoid muscle, vertebral region, and deltoid.
- Significant restriction in temporomandibular joint movement was noted.
Findings:
- The patient exhibited extensive heterotopic ossification consistent with FOP.
- Surgery was declined by parents due to concerns regarding exacerbation of the condition.
- No effective medical therapy for FOP is currently established.
Implications:
- FOP management requires careful consideration of surgical interventions.
- Patients with FOP necessitate specialized care during oral surgery and anesthesia.
- This case underscores the critical importance of informed decision-making regarding surgical procedures in FOP patients.
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