Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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March 17, 2014
Fibrodysplasia Ossificans Progressiva
- Fibrodysplasia ossificans progressiva is a rare entity that affects 0.5 /million individuals, with no sex predisposition.
- It occurs sporadically but may be transmitted as an autosomal dominant trait with variable expression and complete penetrance.
- Symptoms include episodic painful and inflammatory soft tissue swellings during the first decade of life.
- Key Diagnostic Features: Radiographic and bone scan findings suggest normal modeling and remodeling of heterotopic skeleton. The bone scan findings are abnormal before heterotopic ossification can be detected on conventional radiography. CT and MRI demonstrate swelling of the muscular fascial planes that could be identified on prior to the development of ectopic ossification. It should be remembered that on biopsy fibromuscular ossificans progressiva.
- DDx: Rhabdomyosarcoma, chronic hematoma, myosistis ossificans, chloroma, and hemangioendothelioma
- Rx: Symptomatic relief with corticosteroids, NSAIDS, smooth muscle relaxants
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