Neurofibromatosis (NF)
Neurofibromatosis (NF) is a genetic disorder of the nervous system and causes tumors to grow on nerves.
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.
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.
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