[1]周海银,陈玉坤,陈艳瑛,等.儿童进行性骨化性肌炎3例并文献复习[J].临床小儿外科杂志,2026,(06):578-583.[doi:10.3760/cma.j.cn101785-20260211-00067]
　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,2026,(06):578-583.[doi:10.3760/cma.j.cn101785-20260211-00067]
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儿童进行性骨化性肌炎3例并文献复习

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 期数: 2026年06 页码: 578-583 栏目: 论著 出版日期: 2026-06-26
Title:
Fibrodysplasia ossificans progressiva in children:a report of three cases with a literature review
作者:
周海银1;  陈玉坤1;  陈艳瑛1;  刘萍萍1;  朱光辉2
1. 中南大学湘雅医学院附属儿童医院 湖南省儿童医院重症医学科, 长沙 410007;
2. 中南大学湘雅医学院附属儿童医院 湖南省儿童医院骨科 儿童骨科学湖南省重点实验室, 长沙 410007
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
关键词:
进行性骨化性肌炎; 诊断; 治疗; 儿童
Keywords:
Fibrodysplasia Ossificans Progressiva; Diagnosis; Therapy; Child
DOI:
10.3760/cma.j.cn101785-20260211-00067
摘要:
目的 分析儿童进行性骨化性肌炎(fibrodysplasia ossificans progressiva,FOP)的临床特征、基因突变特点及影像学演变规律,结合文献总结该疾病临床研究进展,为早期诊断与规范化治疗提供依据。方法 回顾性分析湖南省儿童医院2020年1月至2025年12月收治的3例FOP患儿临床资料,系统检索2020年1月至2026年2月PubMed、中国知网、万方数据库、维普数据库发表的FOP相关中英文文献,收集患儿出生史、家族史、临床表现、实验室检查、影像学检查、基因检测结果、治疗方案及随访情况。结果 本院3例均为男性,年龄6个月20天至9岁3个月,均表现为先天性拇趾/拇指短缩畸形及进行性异位骨化,其中2例以躯干软组织肿胀为首发症状,1例(9岁3个月)于6岁时因足部X线检查提示双侧拇趾短缩及拇外翻畸形,后经典型体征及基因检测确诊。3例外周血全外显子测序均显示ACVR1基因第6外显子c.617G>A(p.R206H)杂合突变。急性期予糖皮质激素、非甾体抗炎药(nonsteroidal anti-inflammatory drugs,NSAIDs)干预联合康复训练,随访4个月至2年7个月,均病情稳定。文献分析显示,6篇符合纳入与排除标准文献共报道14例患儿,其中男9例(42.8%)、女5例,中位年龄4.5岁(范围:1个月至13岁),与本院患儿年龄分布基本一致,均存在ACVR1基因突变。结论 FOP以先天性肢端畸形和进行性异位骨化为典型特征,ACVR1基因R206H突变是儿童常见突变类型,X线检查发现拇趾/拇指短缩畸形对早期筛查具有重要价值;急性期使用糖皮质激素或非甾体抗炎药干预联合康复训练,可减轻疼痛,改善生活质量。
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.

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备注/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

更新日期/Last Update: 1900-01-01