Diagnosis of Neurofibromatosis

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Diagnosis of NF1 can be made if two of these features are found:

Six or more cafÃ©-au-lait spots (flat, coffee-coloured patches of skin seen from the first year of life). These increase in number and size as time passes.
Freckling in the armpits and the groins.
Two or more neurofibromas.
Optic glioma (swelling on the main nerve to the eyeball).
Two or more Lisch nodules (these are harmless changes on the iris of the eye).
Neurofibroma within a bone.
A first-degree relative with NF1.

Diagnosis of NF2 is made if either of these is found:

Swellings on both of the vestibular nerves (nerves to the balance organs within each inner ear). These can be seen on magnetic resonance imagining (MRI) or computed tomography (CT) scans.
One neurofibroma (can be in any of a variety of locations) and a first-degree relative with NF2.