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Neurofibromatosis Symptoms & Diagnosis


NF1 and NF2 have different symptoms. With either type, the symptoms can range from mild to severe. In most cases, the symptoms are mild and may be overlooked.

Symptoms of NF1

  • Light brown spots (called café-au-lait spots) on the skin
  • Neurofibromas (tumors that grow on a nerve or nerve tissue)— rarely occur before puberty
  • Soft tumors, which may have a darker color
  • Freckles in the armpits or groin
  • Growths on the iris
  • Tumor on the optic nerve that may affect vision
  • Severe scoliosis (curved spine)
  • Deformed or enlarged bones other than the spine
  • Mild impairment of intellectual function, attention deficit disorder
  • Seizures

Most of these symptoms begin between birth and age 10.

Symptoms of NF2

  • Several tumors on the nerves of the brain and spine—Most common are tumors that affect the nerves to the ears. Hearing loss may begin as early as the teen years.
  • Other symptoms may include:
    • Tinnitus (ringing in the ear)
    • Poor balance
    • Headaches
    • Pain or numbness in the face


The doctor will ask about your:

  • Symptoms
  • Medical history
  • Family medical history

The doctor will also do a physical exam. The diagnosis is generally made based on physical findings. Examples include:

  • Cafè-au-lait spot (main sign of NF)—Adults with six or more spots greater than 1.5 cm in diameter are likely to have NF.
  • Freckling in the armpits, groin, or underneath the breast in women
  • Multiple soft tumors apparent on the skin or deeper in the body viewed by radiologic testing (scans)
  • Soft nodules under the skin
  • Large infiltrating tumors under the skin, which can cause disfigurement and can progress to become malignant peripheral nerve sheath tumors
  • Pigmented, raised spots on the colored part of the eye

Tests for NF1 may include:

  • Exam by a doctor familiar with NF1 (eg, neurologist, geneticist, dermatologist)
  • Eye exam by an ophthalmologist familiar with NF1
  • Removal of neurofibromas for testing
  • Other specific tests associated with complications
  • MRI scan —a test that uses magnetic waves to make pictures of structures inside the brain
  • Genetic testing—available for families with a history of NF1 and NF2. Prenatal diagnosis may be possible with amniocentesis or chorionic villus sampling.

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