Background. Schwannomatosis is a recently recognized form of neurofibromatosis characterized by multiple noncutaneous schwannomas, a histologically benign nerve sheath tumor. As more cases are identified, the reported phenotype continues to expand and evolve. We describe the spectrum of clinical findings in a cohort of patients meeting established criteria for schwannomatosis. Methods. We retrospectively reviewed the clinical records of patients seen at our institution from 1995–2011 who fulfilled either research or clinical criteria for schwannomatosis. Clinical, radiographic, and pathologic data were extracted with attention to age at onset, location of tumors, ophthalmologic evaluation, family history, and other stigmata of neurofibromatosis 1 (NF1) or NF2. Results. Eighty‐seven patients met the criteria for the study. The most common presentation was pain unassociated with a mass (46%). Seventy‐seven of 87 (89%) patients had peripheral schwannomas, 49 of 66 (74%) had spinal schwannomas, seven of 77 (9%) had nonvestibular intracranial schwannomas, and four of 77 (5%) had intracranial meningiomas. Three patients were initially diagnosed with a malignant peripheral nerve sheath tumor; however, following pathologic review, the diagnoses were revised in all three cases. Chronic pain was the most common symptom (68%) and usually persisted despite aggressive surgical and medical management. Other common diagnoses included headaches, depression, and anxiety. Conclusions. Peripheral and spinal schwannomas are common in schwannomatosis patients. Severe pain is difficult to treat in these patients and often associated with anxiety and depression. These findings support a proactive surveillance plan to identify tumors by magnetic resonance imaging scan in order to optimize surgical treatment and to treat associated pain, anxiety, and depression. 摘要 背景. 神经鞘瘤病是最近认识的一种神经纤维瘤病，其特征为多发性皮肤外神经鞘瘤，即组织学良性的神经鞘膜瘤。随着越来越多的病例被发现，见诸报道的表型仍不断在扩大和演变。本文描述了一个患者队列临床表现的特征谱，这些患者均符合已确立的神经鞘瘤病诊断标准。 方法. 回顾性分析1995 ~ 2011年本研究中心收治的患者临床病历，入组患者满足神经鞘瘤病的研究或临床标准。提取患者的临床、影像学、病理学数据，以及发病时年龄、肿瘤部位、眼科评估、家族史、神经纤维瘤病1型（NF1）或NF2的其他红斑改变。 结果. 87例患者符合研究标准。最常见的临床症状为与病变面积无关的疼痛（46%）。87例患者中有77例（89%）为外周神经鞘瘤，66例中有49例（74%）为脊髓神经鞘瘤，77例中有7例（9%）为非前庭颅内神经鞘瘤，77例中有4例（5%）为颅内脑膜瘤。3例患者最初诊断为恶性外周神经鞘膜瘤；然而，经过病理学审查后，3例患者均修正诊断。慢性疼痛为最常见的症状（68%），通常持续存在且不因手术和内科积极治疗而改变。其他常见诊断包括头痛、抑郁以及焦虑。 结论. 外周与脊髓神经鞘瘤常见于神经鞘瘤病患者。这些患者出现的严重疼痛很难治疗，且常与焦虑和抑郁相关。上述发现支持开展积极主动的监测计划，通过核磁共振成像扫描发现肿瘤，进而优化外科治疗手段并治疗相关的疼痛、焦虑以及抑郁。 The spectrum of clinical findings in a cohort of patients meeting established criteria for schwannomatosis is described.