Zhou Haiyin,Chen Yukun,Chen Yanying,et al.Fibrodysplasia ossificans progressiva in children:a report of three cases with a literature review[J].Journal of Clinical Pediatric Surgery,,():578-583.[doi:10.3760/cma.j.cn101785-20260211-00067]
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Fibrodysplasia ossificans progressiva in children:a report of three cases with a literature review

Journal of Clinical Pediatric Surgery[ISSN:1671-6353/CN:43-1380/R] volume: Number: 2026 06 Page: 578-583 Column: 论著 Date of publication: 2026-06-26
Author(s):
Zhou Haiyin1;  Chen Yukun1;  Chen Yanying1;  Liu Pingping1;  Zhu Guanghui2
1. Department of Critical Care Medicine, Hunan Children’s Hospital (Xiangya School of Medicine, Central South University), Changsha 410007, China;
2. Department of Orthopedics, Hunan Children’s Hospital (Xiangya School of Medicine, Central South University), Hunan Provincial Key Laboratory of Pediatric Orthopedics, Changsha 410007, China
Keywords:
Fibrodysplasia Ossificans Progressiva; Diagnosis; Therapy; Child
DOI:
10.3760/cma.j.cn101785-20260211-00067
Abstract:
Objective To explore the clinical characteristics,gene mutation features and imaging evolutions of fibrodysplasia ossificans progressiva (FOP) in children and summarize its research advances of the disease through a literature review to provide rationales for early clinical diagnosis and standardized treatment. Methods A retrospective analysis was conducted for the relevant clinical data of three male FOP children hospitalized from January 2020 to December 2025.Systematical searches were performed for FOP-related Chinese and English literature published from January 2020 to February 2026 in the databases of PubMed,CNKI,WANFANG and VIP.Birth history,family history,clinical manifestations,laboratory tests,imaging examinations,genetic test results,treatment protocols and follow-up information were recorded. Results Age range was 6 months and 20 days to 9 years and 3 months.They presented with congenital shortening of big toe/thumb and progressive heterotopic ossification.Among them,2 cases had swelling of trunk soft tissue as an initial symptom.One boy (9 years and 3 months) was diagnosed with bilateral shortening of big toe and hallux valgus deformity by foot radiography at an age of 6.It was later confirmed by classical physical signs and genetic testing.Heterozygous mutation c.617G>A (p.R206H) was detected in VI exon of ACVR1 gene by whole exome sequencing in peripheral blood.During acute phase,intervention with glucocorticoids and nonsteroidal anti-inflammatory drugs (NSAIDs) were offered along with rehabilitation training.Follow-up was conducted for 4 months to 2 years and 7 months and the outcomes remained stable.The literature analysis revealed that 6 articles fulfilling the search criteria reported a total of 14 children,including 9 boys and 5 girls.The median age was 4.5 years (range:1 month to 13 years).It was basically consistent with the age distribution of 3 children at our hospital.All children had ACVR1 gene mutations. Conclusion FOP is characterized by congenital limb deformities and progressive heterotopic ossification.And R206H mutation in ACVR1 gene is a common type of mutation in children.Detecting big toe/thumb shortening deformities on radiography is essential for early screening;Using glucocorticoids or nonsteroidal anti-inflammatory drugs plus rehabilitation training during acute phase may alleviate pain and boost quality-of-life.

References:

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Memo

收稿日期:2026-2-11。
基金项目:国家重点研发项目(2023YFC2507605);儿童骨科学湖南省重点实验室(2023TP1019);湖南省医学学科建设项目(C类,湘卫医发 [2025]7号);湖南省科技厅课题(2023JJ60282)
通讯作者:朱光辉,Email:zgh5650@163.com

Last Update: 1900-01-01