Neurofibromatosis (NF)

Neurofibromatosis (NF) is a genetic disease that affects how nerve tissue grows. Tumors can grow on nerve cells on or beneath the skin anywhere in the body. These tumors are usually benign (not cancerous) but can cause issues such as skin problems, bone deformities and developmental issues. There are two different forms of NF:

Type 1 (NF1)

The most common type of neurofibromatosis and usually appears in childhood. Occurring in 1 out of 4,000 births, it mainly affects nerves on the outer parts of the body. It is also known as von Recklinghausen disease.

Bone deformities associated with NF1 include:

Congenital Tibial Deformity or Fracture

When a baby with NF1 is born, they may have a leg that bows forward and is shorter than the other. This is called anterolateral tibial bowing. By age 2, this leg usually breaks without warning, even if a doctor uses a brace to try to prevent the fracture. Since these fractures usually don’t heal well, multiple surgeries may be needed.

Limb Length Discrepancy

When there is a difference in the length of either the arms or legs it is called a limb length discrepancy. Limb length discrepancy is usually mild and is actually quite common. While issues with different arm lengths are usually manageable, leg length discrepancies can be harder to manage. If there is only a slight difference in leg length, shoe lifts may be prescribed to help. Larger differences may require surgery.

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Scoliosis

When a spine curves more than 10 degrees, a child has scoliosis. Depending on the degree of the curve, a child might need a brace or surgery.

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Type 2 (NF2)

A less common type of neurofibromatosis, occurring in 1 out of 40,000 births. It mainly affects the central nervous system, causing tumors in the brain and spinal cord.

CAUSE

Neurofibromatosis is a genetic disease, which means a child is born with it.

SYMPTOMS

NF1

Symptoms are usually mild to moderate, appear early in life and include:

• Multiple birthmarks or café au lait spots
• Tumors that grow from the nerves
• Small brown tumors that can appear in the iris (colored part) of the eye
• Bone abnormalities

NF2

Symptoms include:

• Gradual hearing loss, beginning in the late teenage years or early adulthood
• Auditory nerve tumors
• Other complications such as ringing in the ears, headaches, facial pain/numbness and trouble with balance

DIAGNOSIS

Diagnosis for NF usually begins with a physical exam and a review of both your child’s medical history and your family medical history. Next, our doctors will likely examine your child’s skin to look for café au lait spots. Our specialist may also recommend additional testing for diagnosis of NF1 and/or NF2 including:

• An eye exam
• Hearing and balance exams
• Imaging tests such as X-rays, CT scans, or MRIs
• Genetic tests

Diagnosis of NF 2 may be difficult to be conclusive without a family history because symptoms don’t appear until teenage years or later.

TREATMENT

Neurofibromatosis is a chronic condition that can’t be cured. The goal of treatment is to manage the symptoms of neurofibromatosis. In many instances, patients will require several specialized doctors to be involved in their care. Bone deformities will need to be treated by an orthopedic specialist. Other possible strategies for treatment include:

• Regular monitoring or checkups
• Pain medications
• Surgery or other procedures
• Cancer treatment if your child’s neurofibromatosis leads to malignant tumors or other related cancers

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Bone Tumors

Scoliosis