ArticleOrphanet journal of rare diseases2026
Solitary infantile myofibromatosis of the extremities: a multicenter case series with descriptive analysis of recurrence and β-catenin expression.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundInfantile myofibromatosis (IM) is a rare benign myofibroblastic neoplasm of infancy that usually involves the skin, bone, muscle, and soft tissue and rarely visceral organs. QUESTIONS/PURPOSES: The aim of this study is to describe solitary IM involving bone or soft tissue in the extremities across different ages and sexes and to explore whether larger tumor size and beta-catenin (β-catenin) positivity were more frequently observed in recurrent cases.
methodsThis multi-center study included 15 patients diagnosed and treated with IM between January 2004 and December 2019. All patients were diagnosed with incisional biopsy before definitive surgery to rule out the risk of sarcoma. Data including age, sex, duration of complaints, time to diagnosis, size, tumor histology, surgery type, complications, recurrence, functional outcomes and follow-up were recorded. β-catenin immunoreactivity was assessed in all patients, and the findings were analyzed descriptively because of the small sample size.
resultsThe mean age of the patients was 8.3 ± 6.4 years with male predominance. Recurrence was observed in five patients. Tumors larger than 5 cm and β-catenin positivity were more frequently observed in recurrent cases. Neurovascular involvement, documented on preoperative imaging and/or intraoperative findings, was seen in both recurrent and non-recurrent cases. Given the very small cohort, these observations are presented descriptively.
conclusionSoft tissue IM is difficult to diagnose and can be misdiagnosed as malignancy. Therefore, biopsy before definitive surgery remains crucial. In this series, recurrence was observed in a subset of solitary extremity IM cases, and recurrent cases more often showed larger tumor size and β-catenin positivity. However; Further large-scale, prospective studies are needed to draw more reliable conclusions on this subject. LEVEL OF EVIDENCE: Level III, retrospective study. CLINICAL TRIAL NUMBER: Not applicable.
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