Neurofibromatosis

Most children with neurofibromatosis have brown patches (café au lait spots) on their skin. Tumors caused by neurofibromatosis are usually benign but can become cancerous. The effects of this condition vary greatly. Some children have almost no symptoms while others experience disfigurement or blindness.

There are three types of neurofibromatosis:

• Neurofibromatosis-1 (NF1). NF1 generally causes changes to the skin or bones, tumors on the bones or tumors that grow throughout a lifetime. Skin changes can include tumors in the bottom layer of the skin (subcutaneous tumors) as well as large skin or nerve tumors that can, in rare cases, cause severe disfigurement. Many tumors caused by this disorder can occur in the brain. Only in rare cases are any of these tumors cancerous. The condition usually becomes apparent in childhood, and some infants are born with symptoms.
• Neurofibromatosis-2 (NF2). NF2 typically causes tumors on a particular cranial (head) nerve and often causes neurologic problems and damage to hearing and balance. This form of neurofibromatosis generally starts to appear in the teenage to young adult years and can cause other types of nerve tumors that are found along the spine or in the brain.
• Schwannomatosis. Schwannomatosis is a very rare condition that is related to NF2. It appears mostly in adults and causes intense pain that can occur in any part of the body. Schwannomatosis almost never affects children.

NF1 and NF2 are caused by mutations in two different genes. These mutations can be passed from parent to child, with a 50 percent chance that a child with one parent who has the condition will receive it from that parent. The mutation can also happen without being passed from a parent.

Symptoms of neurofibromatosis-1 may include:

• Attention-deficit/hyperactivity disorder (ADHD)
• Blindness from tumor compression of eye nerves
• Bowing of the long bones of the legs
• Colored, raised spots on the iris of the eye (Lisch nodules)
• Convulsions
• Fractures in the long bones of the leg from abnormal growth (tibial dysplasia)
• Large, soft tumors (plexiform neurofibromas) under the skin or deeper in the body
• Learning disorders
• Scoliosis
• Sphenoid dysplasia (loss of some bones of the skull)
• High blood pressure

Symptoms of neurofibromatosis-2 may include:

• Balance problems
• Cataracts
• Headaches
• Hearing loss or ringing in the ears (tinnitus)
• Skin tumors

Diagnosis of Neurofibromatosis

Doctors at Riley at IU Health diagnose neurofibromatosis based on symptoms. Genetic testing can confirm the diagnosis as either NF1 or NF2. Other tests and information that may be used to make a diagnosis include:

• Your child's medical history
• Physical examination
• Eye exam
• Magnetic resonance imaging (MRI) to look at tumors inside the body