Cobb综合征的病因及诊疗进展
病因学,诊断,基因
王文静 霍然![](/images/paper/1008-6455/202303/50-1-l.jpg)
[摘要]Cobb综合征(Cobb syndrome,CS),也称为节段性脊柱血管畸形综合征或脊柱节段性血管瘤病,是涉及同一体节的皮肤、软组织、脊柱以及脊髓的血管异常的罕见神经皮肤综合征。临床表现为逐渐加重的肢体麻木无力,常伴有疼痛,在查体时发现皮肤表面的血管畸形。由于其罕见性及其临床症状的复杂性,在临床上容易误诊或漏诊,给诊疗带来了挑战。该文总结归纳了近年来CS的研究进展,从病因、临床表现、诊断和治疗等方面进行概述,并通过分析该病常见的皮肤症状,为该病的早期诊断提供参考。
[关键词]Cobb综合征;病因学;基因;诊断;血管畸形
[中图分类号]R732.2? ? [文献标志码]A? ? [文章编号]1008-6455(2023)03-0185-04
Abstract: Cobb Syndrome (CS), also known as one of a class of Spinal arteriovenous metameric syndrome (SAMS), is a rare neurodermal syndrome involving vascular abnormalities in the skin, soft tissue, spine, and spinal cord of the same metamere. Clinical manifestations include gradually increased limb numbness, often accompanied by pain, and skin vascular malformation or hemangioma. Because of its rarity and the complexity of clinical symptoms, its easy to be misdiagnosed or undiagnosed, which brings challenge to diagnosis and treatment. This review summarizes the research progress of CS in etiology, clinical manifestations, diagnosis and treatment ......
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