Neurofibromatosis Clinic

How is the Diagnosis of Neurofibromatosis Made?

Features of NF1
To be given the diagnosis of NF1, an individual must have at least two of the following features.  Some people with NF1 have only two, while others can have several of these features:

• Six or more cafe-au-lait spots, or coffee-colored birthmarks, each measuring over an inch in adults (1/4 inch in children).
  
  
• Two of more benign skin tumors called neurofibromas or one diffuse tumor of the soft tissue called a plexiform neurofibroma.
  
  
• Freckles under the arm or in the groin region.
  
  
• A tumor of the nerve to the eye called an optic glioma.
  
  
• Two or more spots on the iris of the eye called Lisch nodules.
  
  
• A problem of one of the bones such as bowing of a leg, with or without a fracture.
  
  
• A parent, brother, sister, or child with NF1.

Features of NF2
Individuals with NF2 have fewer outward signs of the condition than individuals with NF1.  To be given the diagnosis of NF2, an individual must have the following features:

• Benign tumors on both sides of the head involving the nerves for hearing and balance, called acoustic neuromas or vestibular schwannomas.

or

• Family history of NF2 (a first-degree relative, i.e. mother, father, brother, sister, or child, with NF2) AND one of the following:
  
  
  • An acoustic neuroma or vestibular schwannoma on one side of the head before the age of 30, or
    
    
  • Any two of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract.

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