Neurofibromatosis 1 (NF1) is a common autosomal dominant neurocutaneous disorder with varied clinical manifestations. The article outlines the current guidelines for diagnosis and management of NF1, developed by experts in the field. Diagnosis is based on clinical criteria, including the presence of six or more café au lait patches, neurofibromas, and other features. Genetic testing is not routinely recommended but may be used in uncertain cases. MRI findings, such as hyperintense T2-weighted lesions, are pathognomonic for NF1 but not always necessary for diagnosis. Differential diagnoses include other neurofibromatosis types and conditions with similar presentations. NF1 is associated with a range of complications, including neurological issues, cardiovascular problems, and psychological difficulties. Management involves regular monitoring, patient education, and multidisciplinary care. Malignant peripheral nerve sheath tumours (MPNST) are a significant risk, requiring prompt evaluation and treatment. Genetic counselling is essential for families, with a 50% risk of passing the condition to offspring. Prenatal testing and preimplantation genetic diagnosis are available options. The article emphasizes the importance of early diagnosis and ongoing care for individuals with NF1. It highlights the need for a coordinated approach involving various specialists, including neurologists, geneticists, and dermatologists. The role of specialist clinics in providing comprehensive care is stressed, as well as the importance of psychological support and education for patients and their families. The article also discusses the challenges of managing NF1 in adults, including the need for regular follow-up and the importance of addressing both physical and psychological aspects of the condition. Overall, the guidelines aim to improve the quality of care for individuals with NF1 through a multidisciplinary, patient-centered approach.Neurofibromatosis 1 (NF1) is a common autosomal dominant neurocutaneous disorder with varied clinical manifestations. The article outlines the current guidelines for diagnosis and management of NF1, developed by experts in the field. Diagnosis is based on clinical criteria, including the presence of six or more café au lait patches, neurofibromas, and other features. Genetic testing is not routinely recommended but may be used in uncertain cases. MRI findings, such as hyperintense T2-weighted lesions, are pathognomonic for NF1 but not always necessary for diagnosis. Differential diagnoses include other neurofibromatosis types and conditions with similar presentations. NF1 is associated with a range of complications, including neurological issues, cardiovascular problems, and psychological difficulties. Management involves regular monitoring, patient education, and multidisciplinary care. Malignant peripheral nerve sheath tumours (MPNST) are a significant risk, requiring prompt evaluation and treatment. Genetic counselling is essential for families, with a 50% risk of passing the condition to offspring. Prenatal testing and preimplantation genetic diagnosis are available options. The article emphasizes the importance of early diagnosis and ongoing care for individuals with NF1. It highlights the need for a coordinated approach involving various specialists, including neurologists, geneticists, and dermatologists. The role of specialist clinics in providing comprehensive care is stressed, as well as the importance of psychological support and education for patients and their families. The article also discusses the challenges of managing NF1 in adults, including the need for regular follow-up and the importance of addressing both physical and psychological aspects of the condition. Overall, the guidelines aim to improve the quality of care for individuals with NF1 through a multidisciplinary, patient-centered approach.