October 3, 2018

Neurofibromatosis: Symptoms, causes and treatment

Diseases and Conditions | Pediatric Orthopedics

Neurofibromatosis affects the growth and development of nerve cell tissues, which can cause tumors to grow on nerves. In turn, it can affect many systems in the body such as the skin, bones and brain.

How does neurofibromatosis affect the body?

Neurofibromatosis can cause skin changes, bone deformities and other problems. The tumors developed, called neurofibromas, are usually noncancerous (benign) and grow on nerves within the body and sometimes under the skin.

In many cases of neurofibromatosis, symptoms are present at birth or develop during childhood. Some people have symptoms that are not noticeable at all. On the other hand, some symptoms cause significant disability.

What causes neurofibromatosis?

Neurofibromatosis is a genetic disorder. An abnormal gene causes each form of the disease.

Types of neurofibromatosis

Neurofibromatosis type 1 (NF1)

NF1 is the most common form of the disease. Also known as von Recklinghausen disease, it affects nerves of the outer parts of the body.

Symptoms typically develop early in life and include:

  • Multiple birthmarks
  • Multiple tumors on the skin or deep within the body
  • Lisch nodules in the eyes
  • Delayed in learning to walk
  • Speech problems
  • Oversized head
  • Hypertension
  • Scoliosis
  • Congenital pseudarthrosis of the tibia

Neurofibromatosis type 2 (NF2)

NF2 is a less common form of the disease. Also known as bilateral acoustic neurofibromatosis, NF2 mostly affects the central nervous system, causing tumors of the brain and spinal cord.

Symptoms typically develop in the teens or early twenties and include:

  • Hearing loss
  • Auditory nerve tumors
  • Ringing in the ears
  • Headaches
  • Facial pain/numbness
  • Trouble with balance

Physician Examination

After a complete medical history review, your physician will evaluate perform a physical exam to look for changes in the skin or presence of tumors or bone abnormalities.

Your physician may recommend tests to confirm neurofibromatosis including:

  • X-ray
  • MRI
  • Biopsy


Can neurofibromatosis be cured?

There is no cure for neurofibromatosis, treatment focuses on managing symptoms and preventing complications. Regular medical evaluations from a team of caregivers (orthopedic surgeons, neurologists, dermatologists and radiologists) optimize care.

Treatment for orthopedic problems related to neurofibromatosis

Scoliosis treatment including


Pseudarthrosis of the tibia treatment including

  • Bracing to protect from bone fracture
  • Surgery to correct broken bone

Learn more about pediatric orthopedic care at OrthoIndy.

Schedule an appointment

Your well-being is important to us. Click the button below or call us to schedule an appointment with one of our orthopedic specialists. If your injury or condition is recent, you can walk right into one of our OrthoIndy Urgent Care locations for immediate care. For rehabilitation and physical therapy, no referral is needed to see one of our physical therapists.

Schedule an Appointment Call OrthoIndy 317.802.2000

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