Diagnosis:
Clinical features:
NF 1, two or more of the following:
- >5 Café au lait spots
- Neurofibroma:
- 2 or more neurofibroma
- or 1 plexiform neurofibroma
- Freckles in the axilla or inguinal area a.k.a. Crowe’s sign
- 2 or more Lisch nodules (iris hamartomas)
- Optic glioma
- A distinctive osseous lesion: sphenoid dysplasia, thinning of long bone cortex
- A parent, sibiling or child with neurofibromatosis
NF 2:
- Bilateral VIII nerve palsy due to schwannoma
- A parent, sibling or child with NF 2 plus either:
- Unilateral VIII nerve mass
- Or two of the following: neurofibroma, meningioma, glioma, schwannoma or juvenile posterior subcapsular lens opacity
Investigations to consider:
MRI brain and MRI spine
Hearing tests, auditory evoked response
Slit lamp: Lisch nodules in type 1 neurofibromatosis
Monitor:
- In relatives of those with NF type 2: regular hearing tests, auditory evoked responses
Treatment:
Supportive care
Treat complications
Subcutaneouns neuroma:
- Excise if painful