Lan Wei-Che, Aoh Yu, Chen Rui-Yun, Tien Hui-Chi, Lin Chia-Der
Department of Otolaryngology Head and Neck Surgery, China Medical University Hospital, No.2, Yude Rd., North Dist., Taichung City, 404, Taiwan, Republic of China.
Department of Otolaryngology Head and Neck Surgery, Asia University Hospital, No. 222, Fuxin Rd., Wufeng Dist., Taichung City, 413, Taiwan, Republic of China.
J Otolaryngol Head Neck Surg. 2020 Jun 26;49(1):45. doi: 10.1186/s40463-020-00438-1.
Neurofibromatosis type 2 (NF2) is a rare genetic disease involving multiple tumors of the central and peripheral nervous systems. Most patients with NF2 have bilateral vestibular schwannomas; nonvestibular schwannomas may also develop. While the majority of patients may present with hearing impairment, tinnitus, dizziness and balance disorders, some may present with cutaneous manifestations. We describe the case of a 20-year-old man who initially presented with a solitary subcutaneous painless nodule in the left preauricular area without any other symptoms. He received excisional biopsy for the preauricular mass and the pathologic diagnosis was schwannoma. Magnetic resonance imaging of brain and neck revealed multiple mass lesions over the bilateral cerebellopontine angle cisterns, extending to the bilateral internal auditory canals, bilateral cervical neuroforamens, cervical and upper thoracic spinal canals, and left posterior neck. The patient was diagnosed with NF2 according to the clinical criteria. He underwent gamma knife stereotactic radiosurgery for bilateral vestibular schwannomas and is now under regular monitoring. CONCLUSION: NF2 patients may present with an isolated solitary cutaneous schwannoma with no other associated clinical findings. Further assessment is thus warranted in young patients presenting with a peripheral schwannoma despite absence of other clinical findings.
2型神经纤维瘤病（NF2）是一种罕见的遗传性疾病，涉及中枢和周围神经系统的多个肿瘤。大多数NF2患者患有双侧前庭神经鞘瘤；也可能发生非前庭神经鞘瘤。虽然大多数患者可能出现听力障碍、耳鸣、头晕和平衡障碍，但有些患者可能出现皮肤表现。我们描述了一名20岁男性的病例，他最初在左耳前区域出现一个孤立的皮下无痛结节，无任何其他症状。他接受了耳前肿块的切除活检，病理诊断为神经鞘瘤。脑部和颈部的磁共振成像显示双侧桥小脑角池有多个肿块病变，延伸至双侧内耳道、双侧颈椎神经孔、颈椎和上胸椎椎管以及左后颈部。根据临床标准，该患者被诊断为NF2。他接受了双侧前庭神经鞘瘤的伽玛刀立体定向放射外科治疗，目前正在定期监测中。结论：NF2患者可能表现为孤立的皮肤神经鞘瘤，无其他相关临床发现。因此，对于尽管没有其他临床发现但出现周围神经鞘瘤的年轻患者，有必要进行进一步评估。
