ISSN - 0973-0958

Pediatric Oncall Journal View Article

Fibrodysplasia Ossificans Progressiva - Recognising the Early features and Avoid Doing Harm
Natalie Wing Tung HO, Mandy Hiu Ching LAM, Winnie Kwai Yu CHAN.
Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong SAR.
Abstract
Fibrodysplasia ossificans progressive (FOP) is an extremely rare non-inflammatory disease that involves heterotrophic bone formation after tissue injury. Diagnosis of FOP is based on clinical suspicion for children presenting with bilateral hallux valgus and acute soft tissue swelling after trauma. Genetic analysis for mutation of the ACVR1 gene is considered a confirmatory test. We present 2 children with FOP that were diagnosed at seven years and twenty months of age respectively. The first patient presented with acute tissue swelling over the back and an incidental finding of hallux valgus. Genetic study revealed heterozygous c617G>A mutation in exon 4 of the ACVR1 gene suggestive of FOP. She had several relapses, and management pitfalls are highlighted. This first case alerted early diagnosis of FOP in a twenty-month-old boy with bilateral hallux valgus.

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