Table 1. NIH diagnostic criteria for neurofibromatosis type 1 (20).

Two or more of the following clinical features must be present:
Six or more café-au-lait macules of more than 5 mm in greatest diameter in pre-pubertal individuals, and more than 15 mm in greatest diameter in post-pubertal individuals
Two or more neurofibromas of any type or one plexiform neurofibroma
Freckling in the axillary or inguinal regions
Optic glioma
Two or more iris hamartomata (Lisch nodules)
Distinctive bony lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudo-arthrosis
A first-degree relative (parent, sibling, or offspring) with NF1 based on the above criteria