Neurofibromatosis

What is 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 type 1 (NF1)

NF1 generally causes changes to the skin, bones and tumors that grow along the nerves (neurofibromas) throughout life.

Skin changes caused by neurofibromatosis can include:

• Brown patches (café au lait spots) on the skin
• Tumors of the skin (cutaneous neurofibromas)
• Large nerve tumors (plexiform neurofibromas)
• These tumors can cause disfigurement, pain and other symptoms.

Tumors can also occur in the brain. In rare cases, tumors can become cancerous. The condition usually becomes apparent in childhood, and some infants are born with symptoms.

Neurofibromatosis type 2 (NF2)

NF2 typically causes the development of benign tumors called vestibular schwannomas on the eighth cranial nerve. This nerve sends sound and balance information from the inner ear to the brain.

This type of neurofibromatosis usually begins in the teenage or young adult years. It may also cause other nerve tumors to develop along the spine or in the brain, such as ependymomas and meningiomas.

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 rarely affects children.

What causes NF1 and NF2?

Mutations in two different genes cause NF1 and NF2. Mutations can be passed from parent to child. There is a 50 percent chance that a child with one parent with the condition will inherit it from them. The mutation can also happen without being passed from a parent.

Signs & Symptoms

Symptoms of NF1 may include:

• Attention-deficit/hyperactivity disorder (ADHD)
• Vision loss or blindness caused by tumors on the eye nerves (optic gliomas)
• Bowing of the long bones of the legs (tibial dysplasia)
• Colored, raised spots on the iris of the eye (Lisch nodules)
• Brown spots on the skin (cafe au lait macules)
• Large head size
• Delayed or early puberty
• Autism spectrum disorder
• Seizures
• Fractures in the long bones of the leg from abnormal growth (pseudarthrosis)
• Large, soft tumors (plexiform neurofibromas) under the skin or deeper in the body
• Learning disabilities
• Scoliosis or curvature of the spine
• Skin tumors (cutaneous neurofibromas)
• Sphenoid dysplasia (loss of some bones of the skull)
• High blood pressure

Symptoms of NF2 may include:

• Balance problems
• Cataracts
• Headaches
• Hearing loss or ringing in the ears (tinnitus)
• Skin tumors
• Facial weakness
• Swallowing difficulties
• Seizures
• Vision loss
• Pain, loss of mobility, or neuropathy due to tumors compressing the spinal cord or peripheral nerves

Key Points to Remember

• Neurofibromatosis is a genetic disorder in which tumors (neurofibromas) grow on or around nerve tissue, including the brain.
• There are three types of neurofibromatosis. NF1 and NF2 are the types that occur most frequently in children.
• The effects of neurofibromatosis vary greatly. Some children have almost no symptoms, while others are disfigured, blinded or have other severe symptoms.
• While neurofibromatosis is a genetic condition that cannot be cured, the symptoms are treatable.
• Children with neurofibromatosis should be evaluated once a year to follow the progress of tumors and to detect new tumors.