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遗传性外生骨疣:一名儿科患者的意外恶性转化。

Hereditary exostosis: An unexpected malignant transformation in a pediatric patient.

作者信息

Ihssan Hadj Hsain, Kaoutar Maslouhi, Chaimae Lahlou, Salma Marrakchi, Sara Ezzaky, Nazik Allali, Latifa Chat, Siham El Haddad

机构信息

Radiology Department of HER, University Mohammed V, Rabat, Morocco.

出版信息

Radiol Case Rep. 2024 Nov 13;20(1):722-726. doi: 10.1016/j.radcr.2024.10.060. eCollection 2025 Jan.

Abstract

In this article, we report the case of an 8-year-old child with multiple hereditary exostoses, revealed by the rapid and painful growth of bone deformities in the right leg. After performing a CT scan, multiple exostoses were observed in the pelvic region and both lower limbs. Notably, the exostosis in the right fibula was larger and exhibited a thickened cartilaginous cap. Subsequent MRI confirmed the presence of signs of malignant transformation at this site. Although the literature suggests that malignant transformation is exceptional at this age, ongoing genetic studies may provide insight into the early occurrence of such complications.

摘要

在本文中,我们报告了一例8岁患有多发性遗传性骨软骨瘤的儿童病例,该病例由右腿骨骼畸形的快速且疼痛性生长所揭示。进行CT扫描后,在骨盆区域和双下肢均观察到多发性骨软骨瘤。值得注意的是,右腓骨上的骨软骨瘤较大,且软骨帽增厚。随后的MRI证实该部位存在恶变迹象。尽管文献表明在这个年龄段恶变情况罕见,但正在进行的基因研究可能会为这类并发症的早期发生提供见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1128/11605353/0ede5d3bdcfa/gr1.jpg

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