Diagnostic criteria of Neurofibromatosis Type 1 |
Diagnostics used in the presence of ≥2 clinical criteria |
At least six café-au-lait macules (>5 mm diameter in prepubertal individuals and >15 mm in postpubertal individuals) |
At least two neurofibromas of any type, or one plexiform neurofibroma Freckling in axillary or inguinal regions |
1 Opticglioma |
At least two Lisch nodules (iris hamartomas) |
A distinctive osseous lesion (sphenoid dysplasia or tibial pseudarthrosis) |
A first degree relative with NF1 |