Neurofibromatosis Type 1 (NF-1) occurs in 1 in 3,000 people, making it the most common form of Neurofibromatosis. Symptoms that involve the skin can sometimes be evident at birth, but most often symptoms develop around the age of puberty. 

 

According to the Children’s Tumor Foundation (2016), In order to be diagnosed with NF-1, two or more of the following criteria must be evident upon examination:

1. Familial history of NF1

2. 6 or more light brown, cafe-au- lait spots on the skin

3. Presence of two or more pea-sized tumors, called neurofibromas on the skin OR one or more

plexiform neurofibroma, which is a large tumor that involves many different nerves

4. Freckling under the arms or in the groin area

5. Lisch nodules, which are areas of hyperpigmentation in the iris of the eye

6. Skeletal abnormalities such as tibial dysplasia (bowing of the leg) or scoliosis (curvature of the

spine)

7. Tumor growth seen on the optic nerve

8. Epilepsy (seizure disorder), whish is seen in 3.5-7.3% of NF-1 patients

 

There is no cure for Neurofibromatosis at this point in time, so treatment is typically aimed at

providing a patient comfort. Surgery can be done to remove tumors that are large or pressing on

nerves, but these tumors frequently grow back. Although majority of NF tumors are benign,

chemotherapy and radiation can both be used to shrink tumors. Only about 5% of NF tumors ever

become malignant.