Neurofibromatosis type 1 (NF1)

≥ 2 of the following must be present:

• ≥ 6 café-au-lait macules with a diameter at the widest point of > 5 mm in prepubertal patients and > 15 mm in postpubertal patients

• ≥ 2 neurofibromas of any type or 1 plexiform neurofibroma

• Freckling in the axillary or inguinal region

• Optic glioma

• ≥ 2 Lisch nodules (iris hamartomas)

• A distinctive osseous lesion (eg, sphenoid dysplasia, thinning of long-bone cortex), with or without pseudarthrosis

• A parent or sibling with diagnosed NF1

Neurofibromatosis type 2 (NF2)

1 of the following must be present:

• Bilateral 8th nerve masses seen with CT or MRI

• A parent or sibling with NF2 and either a unilateral 8th nerve mass or any 2 of the following: Neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity

Schwannomatosis

• ≥ 2 nonintradermal schwannomas (at least one pathologically determined)

• No evidence of vestibular neuroma on high-resolution MRI

• No known NF1 gene mutation

• A pathologically confirmed nonvestibular schwannoma and a 1st-degree relative who meets the criteria above