Purpose: The aims of this study were to compare the clinical manifestations of neurofibromatosis type 1 in the Hungarian population with global data and to establish a standardised diagnostic and follow-up protocol for neurofibromatosis type 1 patients in Hungary. Materials/Methods: We retrospectively analysed the clinical and genetic data of 262 individuals diagnosed with multiple café-au-lait macules or neurofibromatosis type 1 at the Heim Pál National Paediatric Institute between 1 January 2010 and 31 January 2025. The study assessed neurofibromatosis type 1 diagnostic criteria, associated complications, genetic testing outcomes, and disease burden in order to refine diagnostic accuracy and optimise follow-up strategies. Results: Of the 231 individuals fulfilling at least one National Institutes of Health diagnostic criterion, 175 met at least two criteria confirming neurofibromatosis type 1. Genetic testing was performed on 88 patients, and pathogenic variants were identified in 80% of them. Plexiform neurofibromas were detected in 17.7% of patients, optic pathway gliomas in 11.4%, and skeletal abnormalities in 38.2%. Neurodevelopmental disorders were frequently observed, including cognitive impairment, attention deficit hyperactivity disorder, and autism spectrum disorder. Focal areas of signal intensity were present in 56% of patients. A comprehensive follow-up protocol was developed, emphasising early diagnosis, regular dermatological, ophthalmological, neurodevelopmental and orthopaedic assessment, and imaging-based surveillance in high-risk cases. Conclusions: Our findings provide epidemiological data on the Hungarian neurofibromatosis type 1 population and confirm the need for standardised surveillance and interdisciplinary management. Integrating genetic insights and innovative therapeutic options into clinical practice may enhance patient outcomes and guide future treatment strategies.  Kulcsszavak: neurofibromatosis type 1, café-au-lait macules, plexiform neurofibromas, optic pathway gliomas, MEK inhibitors