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多焦点PIK3CA相关的先天性血管瘤
Patricia Andres-Ibarrola1, Irune Méndez Maestro2, Aitor Fernádez de Larrinoa Santamaría3
1Department of Dermatology, Cruces University Hospital, Barakaldo, Spain.
Pediatric dermatology
|April 3, 2025
概括
一个患有多焦点先天性血管瘤和PIK3CA基因变异的新生儿提出了诊断挑战. 这一案例强调了对罕见血管病变进行综合临床,组织学,放射学和基因组分析的必要性.
科学领域:
- 医学遗传学 医学遗传学
- 儿科病理学 儿科病理学
- 皮肤病学 皮肤病学
背景情况:
- 多焦点先天性血管瘤是新生儿罕见的血管瘤.
- 准确的诊断对于适当的管理和与其他血管异常区分至关重要.
- 遗传因素,如PIK3CA变体,在血管病变的发病过程中越来越被认可.
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