Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, Texas, USA.
Department of Radiology, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, Texas, USA.
Pediatr Dermatol. 2022 Sep;39(5):764-766. doi: 10.1111/pde.15044. Epub 2022 Jun 23.
Elephantiasis neuromatosa (EN) is a rare and extreme form of plexiform neurofibroma in patients with neurofibromatosis type 1 (NF1). EN is often associated with significant morbidity and remains difficult to treat. We present a case of an 11-year-old female with NF1 whose thoracolumbar plexiform neurofibroma and lower extremity EN exhibited clinical improvement from treatment with selumetinib, a selective MEK inhibitor.
神经纤维瘤病 1 型相关巨大神经纤维瘤病(EN)是一种罕见的、神经纤维瘤病(NF1)患者中极严重的丛状神经纤维瘤形式。EN 常导致严重的发病率,且仍难以治疗。我们报告了一例 NF1 女性患者,其胸腰椎丛状神经纤维瘤和下肢 EN 在接受 MEK 抑制剂 selumetinib 治疗后临床改善。