Neurofibromatosis type I

Two or More of the following

• 6 or more café-au-lait spots
  • >5 mm in greatest diameter prepubertal children
  • >15 mm in greatest diameter in postpubertal individuals
• Axillary or inguinal freckling
• 2 or more cutaneous neurofibromas
• 1 plexiform neurofibroma
• 2 or more Lisch nodules
  • Lisch nodules in NF-1. Lubs et al. NEJM 1991
• Optic nerve glioma
• A characteristic bony lesion
  • sphenoid wing hypoplasia/dysplasia
  • thinning of long bone cortex with or without pseudarthrosis (poor ossification or non-union of bone creating a “false joint”)
• First-degree relative with NF1