Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago-shi, Tottori 683-8503, Japan.
Acta Derm Venereol. 2018 Aug 29;98(8):753-756. doi: 10.2340/00015555-2975.
Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 registered from 2001 to 2014 in Japan. The ratio of certified patients requiring medical intervention (>stage 3) was 82%. Patients classified in the most severe grade experienced dermatological complications (71.8% of patients), neurological complications (38.1%) and bone complications (33.3%). In patients with dermatological manifestations, medical treatment was needed for cutaneous neurofibromas (58%), diffuse plexiform neurofibromas (31%) and malignant peripheral nerve sheath tumours (10%). Patients with neurological manifestations needed medical treatment mainly for brain tumours (53%) and intellectual disability (26%). Patients with bone manifestations needed medical treatment for pseudoarthrosis (9%), scoliosis (55%) and bone defects (16%). It is necessary for physicians to be aware of neurofibromatosis 1-related complications requiring medical intervention in order to provide appropriate care for patients with neurofibromatosis 1.
神经纤维瘤病 1 有各种并发症。为了阐明需要医疗干预的神经纤维瘤病 1 相关主要并发症的频率，对 2001 年至 2014 年在日本登记的 3530 例神经纤维瘤病 1 患者进行了一项全国性回顾性研究。需要医疗干预（>3 级）的认证患者比例为 82%。分类为最严重等级的患者出现皮肤并发症（71.8%的患者）、神经并发症（38.1%）和骨骼并发症（33.3%）。在有皮肤表现的患者中，需要对皮肤神经纤维瘤（58%）、弥漫性丛状神经纤维瘤（31%）和恶性外周神经鞘瘤（10%）进行治疗。有神经表现的患者主要需要治疗脑瘤（53%）和智力残疾（26%）。有骨骼表现的患者需要治疗假关节（9%）、脊柱侧凸（55%）和骨缺损（16%）。医生有必要了解需要医疗干预的神经纤维瘤病 1 相关并发症，以便为神经纤维瘤病 1 患者提供适当的护理。
