biostudies-literatureUnknown15(1)Bergqvist CNeurofibromatosis 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 natioOrphanet journal of rare diseases37https://www.ebi.ac.uk/biostudies/studies/S-EPMC6998847biostudies-literatureNeurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.PMC6998847Baumann-Morel CBrandt CCombemale PChevrant-Breton JDereure OGuillamo JSCintas PThalamas CCollet EBalguerie XChastagner PServy ASbidian EFabre NCastelnau PLesavre NFrancannet CMaradeix SZehou OBergqvist CBousquet PGoldenberg AHamel-Teillac DDrouin-Garraud VMeyer NPasmant Ed'Incan MDollfus HLacour JPAdamski HValeyrie-Allanore LDe Leersnyder HThauvin CDerancourt CBieth EStalder JFFerraro VMansat ELyonnet SHadj-Rabia SWolkenstein PMoret JCMCVidaud DChandeclerc MLFaivre LGuyant-Marechal LRodriguez DVidaud MZeller JGaillard NFDKemlin IParfait BNF France NetworkBarbarot SDoumar DCheuret EVerloes AChaix YFellmann FGuillot BMozelle MMaincent KPuzenat ECuny JFSchweitzer EFerkal SMazereeuw-Hautier JPinson SMachet LBellanne CLaithier VfalseNeurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.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 natio2020-01-01T00:00:00Z2020 Feb2025-05-29T19:02:24.66Z2021-02-19T11:50:53ZS-EPMC69988473201405210.1186/s13023-020-1310-3