Core Insights - NF1 is increasingly gaining attention in the medical community due to its high incidence in newborns and severe disease burden [1][2] - Early diagnosis and treatment are crucial for NF1 patients, with a focus on multidisciplinary collaboration for comprehensive management [1][3] Group 1: Disease Characteristics - NF1 is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, affecting multiple systems and leading to significant disease burden [1] - Key clinical features include multiple café-au-lait spots, which are important for identification, along with other symptoms like freckles, iris hamartomas, skeletal deformities, and cognitive dysfunction [1][2] Group 2: Patient Statistics and Risks - Approximately 30% to 50% of NF1 patients develop plexiform neurofibromas (PN), with many children showing symptoms at birth [2] - Tumor growth is uncontrolled, with a growth rate of 35.1% per year in children aged 3-5 years, and 8% to 13% of tumors may undergo malignant transformation, with a five-year survival rate of less than 50% post-malignancy [2] Group 3: Diagnosis and Treatment - Diagnosis is primarily based on clinical symptoms, with genetic testing and imaging techniques like MRI used when symptoms are not apparent [2][3] - Treatment varies based on tumor location and impact on the patient, with options including laser treatment for superficial lesions and surgical removal for deep tumors, which pose significant surgical risks [3] Group 4: Management Challenges - Long-term follow-up and standardized management are essential for improving the quality of life for NF1 patients, facing challenges such as difficulties in drug reimbursement and insufficient pediatric medication availability [3] - Multidisciplinary involvement is necessary for effective diagnosis and treatment, requiring collaboration among various specialties including pediatrics, ophthalmology, dermatology, oncology, and surgery [3]