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状静脉形 - 皮下变异模仿其他良性软组织瘤:一个儿科病例系列

Camilo E Alarcón-Pérez^1,2, Carlota Rovira-Zurriaga³, Marta Ivars²

¹Fundació de Recerca Sant Joan de Déu, Barcelona, Spain.

Clinical and experimental dermatology

|December 23, 2025

概括

一种罕见的皮下静脉形 (VVM-SC) 模仿其他儿科瘤,导致误诊. 识别其独特的MAP3K3突变和GLUT-1表达有助于准确的诊断和治疗.

科学领域:

血管异常血管异常
儿科病理学儿科病理学
分子诊断学分子诊断

背景情况:

状静脉形 (VVM) 是一种影响皮肤的先天性血管异常.
一种皮下变种 (VVM-SC) 缺乏皮肤参与,使儿科诊断复杂化.
由于其模仿良性软组织瘤,VVM-SC存在诊断挑战.

研究的目的:

描述VVM-SC.的临床,成像,遗传病理和分子特征.
突出诊断陷和对VVM分类的影响.
为VVM变体提出修订后的术语.

主要方法:

三名患有皮下结节的儿科患者 (8-16岁) 的病例系列.
临床和成像评估,手术切除和组织病理学分析.
免疫组织化学和针对性下一代测序用于分子表征.

主要成果:

皮下结节缺乏表皮变化,具有误导性的成像发现.
组织病理学显示纤维状肌层中的静脉通道;注意到焦点GLUT-1表达.
所有病例都证实VVM-SC具有复发的体质MAP3K3突变 (p.Ile441Met).

结论:

皮下VVM模仿其他儿科瘤,导致诊断错误和过度治疗.
MAP3K3突变是共享的,但VVM-SC在深度和呈现上与经典VVM不同.
为了清晰度,建议修改术语为"与皮肤MAP3K3相关的缓慢流动血管形".

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