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Abstract：
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and have a life expectancy about 10-15 years shorter than the general population. The mainstay of management of NF1 is a patient-centered longitudinal care with age-specific monitoring of clinical manifestations, aiming at the early recognition and symptomatic treatment of complications as they occur. Protocole national de diagnostic et de soins (PNDS) are mandatory French clinical practice guidelines for rare diseases required by the French national plan for rare diseases. Their purpose is to provide health care professionals with guidance regarding the optimal diagnostic and therapeutic management of patients affected with a rare disease; and thus, harmonizing their management nationwide. PNDS are usually developed through a critical literature review and a multidisciplinary expert consensus. The purpose of this article is to present the French guidelines on NF1, making them even more available to the international medical community. We further dwelled on the emerging new evidence that might have therapeutic potential or a strong impact on NF1 management in the coming feature. Given the complexity of the disease, the management of children and adults with NF1 entails the full complement healthcare providers and communication among the various specialties.
摘要：
1型神经纤维瘤病是一种比较常见的遗传性疾病,全球患病率在1/3000至1/6000人之间。该疾病影响皮肤的多个系统，神经学，和骨科作为导致显著发病率或死亡率的主要表现。的确,NF1患者患恶性肿瘤的风险增加，预期寿命比普通人群短10-15年。NF1管理的主体是以患者为中心的纵向护理，对临床表现进行年龄特异性监测，旨在早期识别和对症治疗并发症的发生。法国国家诊断协会（PNDS）是法国国家罕见疾病计划所要求的法国罕见疾病的强制性临床实践指南。他们的目的是为医疗保健专业人员提供有关罕见疾病患者的最佳诊断和治疗管理的指导;因此，在全国范围内协调他们的管理。PNDS通常是通过批判性文献综述和多学科专家共识来开发的。本文的目的是介绍法国关于NF1的指南，使其更多地提供给国际医学界。我们进一步关注了新兴的新证据，这些证据可能具有治疗潜力或对NF1管理产生重大影响。鉴于疾病的复杂性,NF1的儿童和成人管理需要全面补充医疗保健提供者和各种专业之间的沟通。
