Individual is affected with NF–1 if two or more of the following are met |
• Six or more café au lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals |
• Two or more neurofibromas of any type or one plexiform neurofibroma |
• Freckling in the axillary or inguinal regions |
• Optic glioma |
• Two or more Lisch nodules (iris hamartomas) |
• A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis |
• A first degree relative with NF–1 by the above criteria (NIH 1988) |