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Diagnosis of Neurofibromatosis (NF) Type 1

The diagnostic criteria for NF1 has been established by consensus of experts in the field. A person is thought to have NF1 if they have two or more of the following:

  • 6 or more café au lait spots
  • 2 or more dermal neurofibromas (or at least 1 plexiform NF)
  • osseous lesions
  • family history of NF1
  • Lisch nodules
  • freckles in the axillary (armpit) or inguinal (groin) region
  • optic pathway glioma

Only a doctor with expertise in NF1 can provide an accurate diagnosis.

If you suspect you have NF1, but no diagnosis has been made, please visit the Johns Hopkins Comprehensive Neurofibromatosis Center for a consultation with a genetic counselor.

For more information, contact the Johns Hopkins Comprehensive Neurofibromatosis (NF) Center at 410-502-6732.


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