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.

中文翻译：

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神经纤维瘤病 1 法国国家指南基于 1966 年以来的广泛文献综述。


1型神经纤维瘤病是一种相对常见的遗传性疾病，全球患病率为1/3000至1/6000人。该疾病影响多个系统，以皮肤、神经和骨科为主要表现，导致显着的发病率或死亡率。事实上，NF1 患者患恶性肿瘤的风险增加，并且预期寿命比一般人群短约 10-15 年。 NF1 管理的支柱是以患者为中心的纵向护理，针对特定年龄的临床表现进行监测，旨在早期识别并发症并在出现并发症时对症治疗。 Protocole National de Diagnostic et de Soins (PNDS) 是法国国家罕见病计划所要求的强制性法国罕见病临床实践指南。他们的目的是为医疗保健专业人员提供有关罕见病患者最佳诊断和治疗管理的指导；从而在全国范围内统一管理。 PNDS 通常是通过批判性文献综述和多学科专家共识来制定的。本文的目的是介绍法国关于 NF1 的指南，使国际医学界更容易了解这些指南。我们在接下来的专题中进一步讨论了可能具有治疗潜力或对 NF1 管理产生重大影响的新证据。鉴于疾病的复杂性，患有 NF1 的儿童和成人的管理需要医疗保健提供者的全面配合以及各专业之间的沟通。