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FIBRODYSPLASIA OSSIFICANS PROGRESSIVA - RECOGNISING THE EARLY FEATURES AND AVOID DOING HARM.

Authors :
HO, Natalie Wing Tung
LAM, Mandy Hiu Ching
CHAN, Winnie Kwai Yu
Source :
Pediatric Oncall Journal. Jan-Mar2022, Vol. 19 Issue 1, p15-18. 4p.
Publication Year :
2022

Abstract

Fibrodysplasia ossificans progressive (FOP) is an extremely rare noninflammatory 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
09730966
Volume :
19
Issue :
1
Database :
Academic Search Index
Journal :
Pediatric Oncall Journal
Publication Type :
Academic Journal
Accession number :
156265405
Full Text :
https://doi.org/10.7199/ped.oncall.2022.11