Neurofibromatosis

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Neurofibromatosis happens.

It comes in two flavours:

  1. NF1 (peripheral).
  2. NF2 (central).

NF1

Features (need 2/7 to diagnose):[1]

  • Two or more neurofibromas or one plexiform neurofibroma.
  • Café-au-lait spots.
  • Freckles in axilla or inguinal area.
  • Optic nerve glioma.
  • Iris hamartomas (Lisch nodules).
  • Sphenoid dysplasia or typical long-bone abnormalities (e.g. bowing).
  • First-degree relative with NF1.

NF2

Features (need 1/3 to diagnose):[2]

  1. Bilateral CNVIII masses on imaging.
  2. Unilateral CNVIII mass + first-degree relative with NF2.
  3. First-degree relative with NF2 and 2/4 of the following:
    1. Meningioma.
    2. Glioma.
    3. Schwannoma.
    4. Juvenile cataract.

See also

References

  1. ↑ URL: http://emedicine.medscape.com/article/1177266-overview. Accessed on: 3 May 2010.
  2. ↑ URL: http://emedicine.medscape.com/article/1178283-overview. Accessed on: 3 May 2010.
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