Neurofibromatosis type I
Diagnostic Criteria
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
- 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