Neurofibromatosis (NF)

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

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