科布综合征有效地用美丁尼布治疗
Yi Sun1, Xitao Yang1, Xindong Fan1
1Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 639, Zhizaoju Road, Shanghai, PR China.
科布综合征是一种罕见的神经皮肤疾病,在严重病例中与KRAS突变有关. MEK 抑制剂特拉美丁尼布在这些危及生命的疾病中显示出治疗潜力.
科学领域:
- 神经皮肤疾病 神经皮肤疾病
- 血管异常 血管异常
- 罕见疾病的遗传学
背景情况:
- 科布综合征是一种罕见的神经皮肤疾病,由影响皮肤和脊髓的血管异常定义,这些异常发生在同一元体内.
- 神经症状,如疼痛,单衰,头痛,脊椎病和运动缺陷是常见的初始表现.
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