放射学组学杂志

抽象的

Fibrodysplasia Ossificans Progressiva: A Case Report

Anwar A, Elnadi I, Hussein M and Zaki I

Background: Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare autosomal dominant genetic disease characterized by attacks of muscle inflammation followed by development of intramuscular calcifications.

Case report: A 4 month-old female patient presented to the Children’s Cancer Hospital (CCH) with a history of scalp lesions excised outside CCH. Pathology suggested juvenile fibromatosis throughout follow up, development of new lesions and consequent intra-muscular calcifications raised doubt over the diagnosis, FOP was suspected and confirmed by foot X-ray

Conclusion: Fibrodysplasia Ossificans Progressiva is a rare disease that should be considered in young patients presenting with muscular inflammatory mass lesions and/or intramuscular calcification. Early diagnosis and management of the disease has important implications on the quality of life of the patients