中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (10): 957-963.doi: 10.35541/cjd.20240637

• 论著·儿童皮肤病 • 上一篇    下一篇

婴儿肌纤维瘤/肌纤维瘤病44例临床分析

孟欣1    张楠2    徐教生1    王芳3    范竟一4    向欣1    韩晓锋1    徐子刚1   

  1. 1国家儿童医学中心  首都医科大学附属北京儿童医院皮肤科，北京  100045；2国家儿童医学中心  首都医科大学附属北京儿童医院病理科，北京  100045；3广西壮族自治区妇幼保健院皮肤科，南宁  530003；4国家儿童医学中心  首都医科大学附属北京儿童医院骨科，北京  100045
    孟欣为首都医科大学附属北京儿童医院皮肤科进修医师，现在河南省儿童医院郑州儿童医院中医科，郑州  450018

  • 收稿日期:2024-11-25 修回日期:2025-08-04 发布日期:2025-09-30
  • 通讯作者: 徐教生 E-mail:xujiaosheng@sina.com

Clinical analysis of 44 patients with infantile myofibroma/myofibromatosis

Meng Xin1, Zhang Nan2, Xu Jiaosheng1, Wang Fang3, Fan Jingyi4, Xiang Xin1, Han Xiaofeng1, Xu Zigang1   

  1. 1Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; 2Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; 3Department of Dermatology, Maternity and Child Health Care of Guangxi Zhuang Autonomous Region, Nanning 530003, China; 4Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
    Meng Xin underwent the refresher training in Department of Dermatology, Beijing Children's Hospital, Capital Medical University, and is now working in Department of Traditional Chinese Medicine, Henan Children's Hospital Zhengzhou Children's Hospital, Zhengzhou 450018, China
  • Received:2024-11-25 Revised:2025-08-04 Published:2025-09-30
  • Contact: Xu Jiaosheng E-mail:xujiaosheng@sina.com

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摘要： 【摘要】 目的 总结婴儿肌纤维瘤/肌纤维瘤病（IM）的临床特征。方法 回顾性收集2014年8月至2021年7月在首都医科大学附属北京儿童医院、河南省儿童医院及广西壮族自治区妇幼保健院经组织病理确诊为IM患儿的资料，分析并总结其临床、病理、影像学特征及转归。结果 共收集44例IM，其中男28例（63.6%），女16例（36.4%），发病年龄［M（Q1，Q3）］14.8（4.7，42.4）个月，其中1岁以内发病26例（59.1%）。首诊为IM 7例（15.9%）。42例（95.5%）累及皮肤，30例（71.4%）皮损为单发，12例（28.6%）为多发。皮损主要表现为无痛性质韧结节或肿块。皮外最常受累部位为骨骼（21/44，47.7%）。44例IM组织病理表现均呈双相模式，即肿瘤组织中同时出现两种不同的形态或细胞类型，包括成束的肌纤维母细胞密集排列的梭形细胞区域和小而圆的未分化细胞分布的原始间叶细胞区域。42例行免疫组化检查，40例（95.2%）表达平滑肌肌动蛋白，20例（47.6%）表达CD34。3例行基因检测，2例检测到NOTCH基因突变。44例患儿中，30例（68.2%）采用手术切除，5例（11.4%）接受曲安奈德溶液皮损内注射，1例（2.3%）因肠道受累接受化疗；8例未予治疗，仅观察随访。随访49（36，60）个月，42例（95.5%）IM患儿病变完全消退，2例分别因化疗后肺部感染和手术并发症气道压迫死亡。结论 IM好发于婴幼儿，最常见的受累部位为皮肤与骨骼。皮损常表现为质韧的结节或肿块，皮肤病理检查有助于明确诊断。绝大多数IM预后良好。

关键词: 肌纤维瘤, 肌纤维瘤病, 婴儿, 临床表现, 治疗, 预后

Abstract: 【Abstract】 Objective To delineate clinical characteristics of infantile myofibroma/myofibro-matosis （IM）. Methods A retrospective analysis was conducted on histologically confirmed IM cases from Beijing Children's Hospital, Henan Children's Hospital, and Maternity and Child Health Care of Guangxi Zhuang Autonomous Region between August 2014 and July 2021. The clinical, pathological, imaging features, and outcomes were analyzed and summarized. Results A total of 44 IM patients were included, comprising 28 males （63.6%） and 16 females （36.4%）. Their ages at onset （M［Q1, Q3］） were 14.8 （4.7, 42.4） months, and 26 patients （59.1%） developed IM before the age of 1 year. Seven patients （15.9%） were initially diagnosed with IM. Skin involvement occurred in 42 patients （95.5%）, of whom 30 （71.4%） presented with a solitary lesion and 12 （28.6%） with multiple lesions. Skin lesions mainly manifested as painless, firm nodules or masses. The most commonly involved extracutaneous site was the skeletal system （21/44, 47.7%）. Histopathological examination of all 44 IM cases revealed a biphasic architecture pattern, characterized by the coexistence of two distinct morphologies or cell types within the tumor tissues （including spindle cell areas composed of fascicularly and densely arranged myofibroblasts, and primitive mesenchymal cell areas composed of small, round undifferentiated cells. Immunohistochemical study was performed in 42 cases; 40 （95.2%） were positive for smooth muscle actin, and 20 （47.6%） were positive for CD34. Genetic testing was conducted in 3 cases, and NOTCH mutations were identified in 2. Among the 44 patients, 30 patients （68.2%） underwent surgical excision, 5 patients （11.4%） received intralesional injections of triamcinolone acetonide, 1 patient （2.3%） received chemotherapy for intestinal involvement, and 8 patients were managed expectantly. During the follow-up of 49 （36, 60） months, lesions completely resolved in 42 cases （95.5%）, while 2 cases died of pulmonary infection following chemotherapy or postoperative airway compression. Conclusions IM predominantly affected infants and young children, with the skin and skeletal system being the most commonly involved sites. Skin lesions often manifested as firm nodules or masses, and histopathological examination was crucial for definitive diagnoses. Most IM cases exhibited favorable outcomes.

Key words: Myofibroma, Myofibromatosis, Infant, Clinical manifestations, Therapy, Prognosis

引用本文

孟欣 张楠 徐教生 王芳 范竟一 向欣 韩晓锋 徐子刚. 婴儿肌纤维瘤/肌纤维瘤病44例临床分析[J]. 中华皮肤科杂志, 2025,58(10):957-963. doi:10.35541/cjd.20240637

Meng Xin, Zhang Nan, Xu Jiaosheng, Wang Fang, Fan Jingyi, Xiang Xin, Han Xiaofeng, Xu Zigang. Clinical analysis of 44 patients with infantile myofibroma/myofibromatosis[J]. Chinese Journal of Dermatology, 2025, 58(10): 957-963.doi:10.35541/cjd.20240637