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2 user entries

user_forums Overview Sep 21, 2007 @ 02:31

Neurofibromatosis is one of the most common genetic diseases affecting the nervous system.  The incidence is approximately 1 in 3000 live births.

Four forms are described in the literature:

  1. Neurofibromatosis type 1 (aka NF1, von Reckinghausen disease, Classic neurofibromatosis, peripheral neurofibromatosis)
  2. Neurofibromatosis type 2 (aka NF2, central neurofibromatosis, familial acoustic neuromas)
  3. Neurofibromatosis type 3 (aka NF3A, mixed central and peripheral neurofibromatosis, Riccardi neurofibromatosis)
  4. Neurofibromatosis type 4 (aka NF4, variant forms of neurofibromatosis, atypical neurofibromatosis)

user_forums Neurofibromatosis Type 1 Sep 21, 2007 @ 02:49

NF1 is the most common form of neurofibromatosis.  It has an incidence of approximately 1 in 3000 live births.  It has autosomal dominant inheritance, with the abnormal gene located on chromosome 17.  About 50% of cases are due to spontaneous mutation, with no prior family history.

Diagnostic Criteria 

Two or more of the following should be present:

  • 6 or more cafe au lait spots, each >5mm in diameter before puberty, or >15mm in diameter after puberty
  • 2 or more neurofibromas -or- one plexiform neurofibroma
  • Axillary or groin freckling
  • Optic pathway glioma
  • 2 or more Lisch nodules
  • Osseous lesions such as sphenoid dysplasia or long bone thinning
  • First-degree relative with NF1
Management is supportive.

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