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Fibroplasia Ossificans Progressiva: A Case Report of a Rare Disease Entity
Daniel Solomon1, Iyasu Wakjira1, Daniel Hailu2
1Department of Radiology, School of Medicine, College of Health Sciences, Addis Ababa University, Ethiopia.
Background:
Fibrodysplasia ossificans progressiva (FOP), also known as Myositis ossificans progressiva or Munchmeyer's disease, is an extremely rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO). The disease is characterized by congenital skeletal anomalies and progressive ectopic bone formation in connective tissues such as ligaments, muscles and tendons. The disease has an incidence of about 1 in 2 million population.
Case Details:
We report a case of a 2-year and 8-month old male child with an initial diagnosis of soft tissue sarcoma based on fine needle aspiration (FNAC) of neck swelling.
Conclusion:
Fibroplasia ossificans progressive (FOP) characteristically manifests with bilateral malformation of the great toe and progressive heterotopic ossification (HO). Clinicians and radiologists should be aware of these to prevent permanent disability.
Insights
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing skeletal malformations and progressive heterotopic ossification. Early recognition of its characteristic great toe malformation is crucial for preventing disability.
Area of Science:
- Genetics
- Orthopedics
- Rare Diseases
Background:
- Fibrodysplasia ossificans progressiva (FOP), also known as Munchmeyer's disease, is an extremely rare genetic disorder.
- It causes congenital skeletal malformations and progressive heterotopic ossification (HO) in connective tissues.
- FOP affects approximately 1 in 2 million people.
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