Fibrodysplasia Ossificans Progressiva in Pediatrics: A Case Report

Abstract

Introduction: Fibrodysplasia ossificans progressiva is a rare autosomal dominant congenital disease characterized by skeletal malformations and progressive dis- abling heterotopic ossification.

Clinical case: An 11-year-old boy consulted with multiple ossified lesions in the trunk and cervical regions associated with significant limitation in mobility. On physical examination, the big toe is short. Genetic study shows ACVR1 gene mu- tation. He received treatment with short corticosteroid periods after traumas and prior to clinical procedures, as well as a multidisciplinary management.

Literature review: To date the main treatment is the prevention of ossification flare-ups and the use of corticosteroids or anti-inflammatories when they have already started. Clinical trials are ongoing with bisphosphonates and anti-activin A antibodies.

Conclusion: There is currently no specific treatment, however, early diagnosis, pre- vention of flare-ups and new therapies could improve the prognosis of patients.