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内分泌瘤综合征的皮肤学特征-系统性审查和元分析

Sára Pálla¹, Zseraldin Metyovinyi¹, Fanni Adél Meznerics¹

¹Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.

International journal of dermatology

|October 30, 2025

概括

皮肤学表现是遗传内分泌瘤综合征的关键指标,如MEN1,MEN2,CNC和PHTS. 识别这些皮肤发现有助于早期诊断和管理这些复杂的遗传疾病.

科学领域:

内分泌学在内分泌学.
皮肤病学皮肤病学
遗传学遗传学是一个
在瘤学瘤学.

背景情况:

遗传性内分泌瘤综合征 (MEN1, MEN2A, MEN2B, CNC, PHTS) 涉及多系统瘤和特征性皮肤发现.
皮肤表现为这些遗传疾病提供了关键的早期诊断线索.

研究的目的:

系统地审查和综合与MEN1,MEN2A,MEN2B,CNC和PHTS相关的皮肤学特征.
评估皮肤学评估在内分泌瘤综合征的早期识别和管理中的作用.

主要方法:

按照PRISMA 2020指南进行系统审查和元分析.
搜索了MEDLINE,Cochrane图书馆和Embase数据库的相关研究.
包括833名患者的217项研究,分析皮肤病模式和黑色素瘤患病率.

主要成果:

确定了明显的皮肤发现:血管纤维瘤/原瘤/脂质瘤 (MEN1), Amyloidosis (MEN2A),粘膜神经瘤 (MEN2B),lentiginosis/myxomas (CNC),三膜瘤/papillomatous papules/acral keratoses (PHTS). 在皮肤上有明显的皮肤发现:血管纤维瘤/原瘤/脂质瘤 (MEN1), Amyloidosis (MEN2A),粘膜神经瘤 (MEN2B),lentiginosis/myxomas (CNC),三膜瘤/papillomatous papules/acral keratoses (PHTS).
在PHTS (2.2%) 和MEN1 (2.5%) 中注意到黑色素瘤的患病率.
皮肤标记物是系统内分泌瘤综合征的早期指标.

结论:

皮肤学评估对于识别内分泌瘤综合征至关重要.
皮肤表现作为可访问的早期标志物,促进及时的遗传评估和干预.
提高对这些皮肤症状的认识,通过及时诊断和监测,可以改善患者的治疗结果.

关键词:

卡尼 (Carney) 复合体是一个复合体.氨基粉症是什么?遗传性皮肤疾病遗传性皮肤疾病脂肪瘤脂肪瘤脂肪瘤多重内分泌瘤多重内分泌瘤多重哈马托马综合征多重哈马托马综合征主要的皮肤性.

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