NF1 is the more common type of the neurofibromatoses; it accounts for more than 90 percent of NF cases. Often, symptoms of NF1 are apparent at birth. The disorder, also called von Recklinhausen NF or peripheral NF, is characterized by café-au-lait spots on the skin, as well as neurofibromas (tumors) on or under the skin. Scoliosis of the spine may also occur. NF1 affects nerves throughout the body and may cause tumors to develop in the brain, on cranial nerves, or on the spinal cord.
Other symptoms include:
- Freckles in the armpit or groin region
- Tumors in the colored part of the eye
- Tumors that press on the eye, causing impaired vision
- Headaches
- Mental retardation, learning disabilities
- Early puberty
- Enlarged head
- High blood pressure
- Short stature
- Seizures
Approximately half of all NF1 patients have mild symptoms and lead normal lives. Less than 40 percent develop significant complications, and the remaining patients become incapacitated or die from NF1.
Bilateral tumors on the eighth cranial nerve mark NF2, also known as bilateral acoustic neurofibromatosis (BAN). These growths cause pressure damage to neighboring nerves. People affected by NF2 may notice hearing loss in their teenage years or later. Early symptoms include tinnitus (ringing in the ears) and poor balance. Due to the pressure from the tumors, headache and facial pain may also result. NF2 is a rare disorder; prognosis is often poor.
Other symptoms include: