Table 1. Clinical diagnostic criteria for neurofibromatosis type 1.
Diagnostic criteria of NF1 |
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Two or more of the following: |
• At least six café-au-lait macules (> 5 mm diameter in prepubertal individuals and > 15 mm in postpubertal individuals) |
• Freckling in axillary or inguinal regions |
• Optic glioma |
• At least two Lisch nodules (iris hamartomas) |
• At least two neurofibromas of any type, or one plexiform neurofibroma |
• A distinctive osseous lesion (sphenoid dysplasia or tibial pseudarthrosis) |
• A first degree relative with NF1 |