1. Diagnostic Criteria/Signs of NF1
Family history of NF1
Six or more café-au-lait spots on the skin
Freckling under the arms or in the groin area
Presence of pea-sized bumps (neurofibromas) on/just under the skin
Larger areas on/under the skin that appear swollen
Pigmented bumps on the eye’s iris
Skeletal abnormalities
Tumor on the optic nerve that may interfere with vision

Café-au-lait spots are most common on the chest, back, pelvis, elbows and knees. These spots may exist at birth or appear during infancy. Between ages 10 and 15, flesh-colored growths of different sizes and shapes may begin to appear on the skin. There may be fewer than 10 of these growths or thousands of them.

Additional features may include an unusually large head (macrocephaly) and relatively short stature. Seizures may occur, learning disabilities, speech problems or hyperactivity may be experienced.

2. Diagnostic Criteria/Signs of NF2
Bilateral vestibular schwannomas (VS), also called acoustic neuromas, are definitive signs of NF2

Probable signs of NF2 include family history of NF2, unilateral VS or any two of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacity, juvenile cortical cataracts

Depending on the exact location and size of the VS, any of the following may occur, alone or in combination with:

Balance problems
Walking problems
Dizziness
Headache
Hearing loss
Facial weakness
Numbness or pain
Ringing in ears (tinnitus)

Diagnostic Criteria/Signs of Schwannomatosis

Definitive signs (age 30 or older) include showing no evidence of vestibular tumors on an MRI, having no known NF2 mutation and having two or more schwannomas within, or between, layers of the skin (with at least one that is confirmed by tissue pathology)

One pathologically confirmed schwannoma and a first-degree relative who meets the above criteria is also a definitive sign of schwannomatosis

About one-third of people with schwannomatosis have segmental schwannomatosis, with tumors limited to one part of the body (such as an arm, leg or a region of the spine)