Fibrodysplasia Ossificans Progressiva: Case Report

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ŞİMŞEK E., Binay C., Gobut N.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, vol.13, no.3, pp.222-226, 2015 (ESCI) identifier identifier


Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic disorder. Most cases of FOP arise as a result of spontaneous mutation. A few patients with an autosomal dominant genetic transmission are reported. There is no definitive approach to the prevention and treatment of disease. Early diagnosis prevents unnecessary diagnostic and therapeutic procedures which lead to the progression of the disease. Here, we present a case whose first symptoms began at 9 months of age with swelling and stiffness at the vaccinated region and progressed with exacerbations after the excisional biopsy of the lesion and the bone biopsy of the right arm. Symptomatic treatment and prophylactic measures aimed to improve the quality of life. Exacerbations during follow up were treated with oral prednisolone, alendronate and pamidronate.