Diagnostic criteria for neurofibromatosis type 1 (NF1)1 2
| The NF1 patient should fulfil 2 or more of the following criteria: | |
|---|---|
| Six or more café au lait macules | |
| Diameter | ⩾1.5 cm in postpubertal subjects |
| ⩾0.5 cm in prepubertal subjects | |
| Two or more neurofibromas of any type or one plexiform neurofibroma | |
| Multiple freckles in the axillary area or groin | |
| Optic glioma | |
| Two or more Lisch nodules (iris hamartomas) | |
| A distinct osseous lesion such as sphenoid dysplasia or thinning of the bone cortex with or without pseudarthrosis | |
| A first degree relative (parent, sib, or offspring) who meets the above criteria for NF1 | |