Two or more of the following clinical features are sufficient to establish a diagnosis of neurofibromatosis type 1: |
• Six or more café-au-lait macules >5 mm diameter at the largest diameter children >15 mm diameter in post-pubescent individuals |
• Axillary freckling or freckling in inguinal regions |
• Two or more neurofibromas of any type or one or more plexiform neurofibromas |
• Two or more Lisch nodules |
• Bone lesion with sphenoid bone dysplasia or thickening of the cortex of the long bones with or without pseudoarthrosis |
• An optic pathway glioma |
• A first-degree relative with neurofibromatosis type 1 diagnosed by the above criteria |