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What Is Neurofibromatosis?

Neurofibromatosis, also known as von Reklinghausen disease, is a genetically inherited disorder in which the nerve tissue grows benign tumors, called neurofibromas. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.

Neurofibromatosis is a common disorder affecting 1 in 3,000 people. It affects males and females equally. Only one copy of the affected gene is needed to get the disorder, so if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity, however, can vary.

Each type of neurofibromatosis has different symptoms.

Neurofibromatosis 1 (NF1) usually appears during childhood. Symptoms include:

  • Cafe au lait spots – flat, light bright spots on the skin
  • Freckling in the armpits or groin
  • Lisch nodules – tiny bumps on the iris of the eye
  • Neurofibromas – soft, small pumps on or under the skin
  • Bone deformities
  • Optic glioma – tumor on the optic nerve
  • Learning disabilities
  • Larger than average head size
  • Short stature

Neurofibromatosis 2 (NF2) is much less common than NF1 and appears in the late teen and early adult years. Acoustic neuromas, slow-growing tumors in the ears, cause symptoms such as:

  • Gradual hearing loss
  • Ringing in the ears
  • Difficulty with balance
  • Headaches

Schwannomatosis is the rarest type of neurofibromatosis and usually appears after age 25. Tumors develop on the cranial, spinal and peripheral nerves and cause symptoms including:

  • Chronic pain anywhere in the body
  • Numbness or weakness in body parts
  • Loss of muscle

In addition to a physical exam and a discussion of family history, your healthcare provider may also do the following tests:

UR Medicine's Treatments for Neurofibromatosis

UR Medicine offers comprehensive care for children and adults with Neurofibromatosis 1 and 2, including Schwannomatosis.

Our Brain and Spinal Tumor program creates and develops the most innovative and promising treatment strategies for patients with brain and spinal tumors. We offer state-of-the-art treatment, including Translational Brain Mapping.

Our philosophy is to involve all experts with experience in the care of brain and spinal tumors from the very beginning. This means that you or your child may see a neurosurgeon, a pediatric oncologist, and a radiation oncologist.

Although there is no cure for neurofibromatosis, your provider will offer treatment options to manage symptoms. Treatment may include:

  • Medication
  • Surgery
  • Chemotherapy
  • Radiation therapy

These are genetic disorders where care for entire families is important. UR Medicine will provide a care team that is present throughout the patient's life. You will have access to expert providers familiar with these diseases and recommendations for management of complications.

What Sets Us Apart?

The Brain and Spinal Tumor Program within Wilmot Cancer Institute is a multidisciplinary clinic where neurosurgery, neuro-oncology, and radiation oncology experts provide specialized and individualized care. We also rely on support from our nurses, pharmacists, social workers and physical therapists to ensure that the patient and their family is always the focus of our care. We have the most active clinical research program in neuro-oncology in Upstate New York with clinical trials available for a wide variety of diseases.


Our care team is here for you. Find a UR Medicine expert and get care now.

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