Department 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.
Ann Clin Transl Neurol. 2024 Oct;11(10):2811-2814. doi: 10.1002/acn3.52181. Epub 2024 Aug 17.
Cobb syndrome is a rare neurocutaneous disease characterized by vascular anomalies involving the skin and spinal cord at the same metamere. The most common initial symptoms are neurological manifestations such as pain, monoparesis, headache, scoliosis, and motor damage. We present two patients with Cobb syndrome and severe disease burden harboring somatic mutations in KRAS. The two patients were subsequently treated with the MEK inhibitor trametinib, indicating the potential therapeutic benefit of this treatment for patients with life-threatening Cobb syndrome who are currently considered incurable.
科布综合征是一种罕见的神经皮肤疾病，其特征为涉及同一体节的皮肤和脊髓的血管异常。最常见的初始症状是神经表现，如疼痛、单瘫、头痛、脊柱侧凸和运动损伤。我们报告了两例科布综合征患者，他们的疾病负担严重，携带 KRAS 种系突变。这两名患者随后接受了 MEK 抑制剂曲美替尼的治疗，这表明这种治疗对目前被认为无法治愈的危及生命的科布综合征患者具有潜在的治疗益处。
