Department of Hand Surgery Beijing Jishuitan Hospital, Beijing, China.
Chin Med J (Engl). 2013 Jul;126(14):2656-60.
Schwannomatosis is a recently recognized peripheral nerve polyneoplasm with clinical characteristics and a genetic background that differ from those of neurofibromatosis 2 (NF2). The diagnostic and treatment criteria of this rare disorder are herein discussed.
The data of 180 patients who underwent operations for benign schwannomas from 2003 to 2012 in our center were reviewed. Eight of them were classified as schwannomatosis according to the diagnostic criteria suggested by MacCollin. The demographic characteristics were documented and compared between the two groups of patients. The patients' clinical presentations, imaging characteristics, histological features, and treatment results were retrospectively investigated and summarized.
Of the 180 cases of benign schwannomas we reviewed this time, eight patients presented with schwannomatosis (4.44%). The mean age of the two groups was not significantly different (40.0 vs. 44.7 years, t = 0.88, P = 0.378). However, schwannnomatosis seems to more generally occur in females (75% vs. 48% were females, P = 0.162), although the difference was not statistically significant. The initial main symptom was pain. The neurological examination was otherwise normal. Magnetic resonance imaging (MRI) revealed multiple discrete, well-defined round, or oval lesions distributed along the course of the peripheral nerves in the extremities with low-to-intermediate signal intensity on T1-weighted images and high-signal intensity on T2-weighted images. Vestibular schwannomas were excluded in four patients by cranial MRI. The lesions in all patients were resected and were pathologically proven to be schwannomas. The average follow-up period was 26 months. Six individuals obtained a good result without symptoms or function loss.
Schwannomatosis is characterized by the development of multiple schwannomas without evidence of the vestibular tumors that are diagnostic for NF2. It commonly occurs in middle-aged females. It has similar demographic features to solitary benign schwannoma. Surgical resection always results in a good outcome.
神经鞘瘤病是一种新近被认识的周围神经多神经病，其临床特征和遗传背景与神经纤维瘤病 2 型（NF2）不同。本文讨论了这一罕见疾病的诊断和治疗标准。
回顾了 2003 年至 2012 年期间在我们中心接受良性神经鞘瘤手术的 180 名患者的数据。其中 8 例根据 MacCollin 提出的诊断标准被归类为神经鞘瘤病。记录了两组患者的人口统计学特征并进行了比较。回顾性调查并总结了患者的临床表现、影像学特征、组织学特征和治疗结果。
在我们这次回顾的 180 例良性神经鞘瘤中，有 8 例（4.44%）表现为神经鞘瘤病。两组患者的平均年龄无显著差异（40.0 岁比 44.7 岁，t = 0.88，P = 0.378）。然而，神经鞘瘤病似乎更常见于女性（75%比 48%为女性，P = 0.162），尽管差异无统计学意义。首发主要症状为疼痛。神经系统检查正常。磁共振成像（MRI）显示四肢沿周围神经走行的多个离散、界限清楚的圆形或椭圆形病变，T1 加权图像上呈低至中等信号强度，T2 加权图像上呈高信号强度。颅 MRI 排除了 4 例患者的前庭神经鞘瘤。所有患者的病变均被切除并经病理证实为神经鞘瘤。平均随访时间为 26 个月。6 例患者症状和功能无丢失，取得了良好的结果。
神经鞘瘤病的特征是多发性神经鞘瘤的发生，无 NF2 诊断性的前庭神经鞘瘤。它常见于中年女性。它的人口统计学特征与单发良性神经鞘瘤相似。手术切除总是有良好的效果。
