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NF1 is characterized by:

Multiple cafe-au-lait (light brown) spots
  • Individuals with NF1 will have at least 6 café-au-lait spots, but there may be many more. 
  • The number and size of the café-au-lait spots is important for diagnosis. However, the number or size of café-au-lait-spots doesn’t affect the severity of NF1.
Freckles
  • Axillary (underarm) and inguinal (groin) freckles
Multiple cutaneous neurofibromas
  • These are benign tumors under the skin. The total number varies widely among people affected. In an adult, the number may range from a few to hundreds or even thousands. Some people with NF1 never develop any neurofibromas.
  • In general, children do not have many cutaneous neurofibromas.  At puberty, the number increases.  They may cause chronic itching in some children.
Plexiform neurofibromas
  • These are slow growing neurofibromas that may cause disfigurement, affect nerve function, or be life threatening.
  • They are usually present at birth, but may not be identified until later in life.
Lisch nodules
  • These are small, harmless clumps of pigment in the iris of the eye. These do not cause problems with vision. They can often be seen by an ophthalmologist.
Optic glioma
  • This is a tumor affecting the optic nerve.  Optic gliomas can cause a range of visual problems, including blindness in the most severe cases. The majority of gliomas do not need treatment.
  • Gliomas typically develop in the first eight years of life.
Specific skeletal changes
  • These can include thinning of the outer parts of bones such as the shin bone and bones around the eye socket.
Learning disabilities
  • present in abaout 50-60% of individuals with NF1

Other findings in NF1:

  • Headaches are common. They can include migraines, with symptoms including: headaches, abdominal pain, nausea, vomiting, tiredness, fatigue, or dizziness.
  • Neurofibromas may be painful depending on location. They may be painful if bumped or rubbed against often.
  • Scoliosis is common and in some cases may require a brace or surgery.
  • Vasculopathy, which is a disease of blood vessels
  • High blood pressure
  • Below average height
  • Larger than average head size
  • Puberty usually is in normal time frame but can be early or delayed.
  • Tumors other than neurofibromas and optic gliomas can also occur in NF1 but are uncommon.
  • NF1 can result in disfigurement in a number of ways.
    • Skin neurofibromas may develop on the face or on exposed areas of the arms and legs.
    • Larger and deeper plexiform neurofibromas can lead to overgrowth of a particular area of the body.
    • Some of the rare bony complications of NF1 can lead to physical differences.  Specifically, changes in the bones of the skull may occur over time and may affect the eye socket.
    • Pseudoarthrosis (a fracture of the bone that doesn’t heal properly) can result in amputation of part of a limb and the use of a brace or prosthesis.
    • Any of these differences can lead to questions and teasing. This could further lead to social isolation, poor self esteem, anxiety, or depression.
  • Parents sometimes may not choose to inform their young child of his or her diagnosis of NF1, particularly if the only sign is café au lait spots.