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.
- 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.
- 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.
- 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.
- 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.
- present in abaout 50-60% of individuals with NF1