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What is Neurofibromatosis

Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body’s nerves or on or underneath the skin. NF is a rare disease with fewer than 200,000 US cases per year. Treatment can help, but this condition can’t be cured. This disease requires a medical diagnosis with lab tests and/or imaging. It is chronic lasting from years to a lifetime. Luckily, neurofibromatosis is usually noncancerous. There are three types of this condition. Type 1 usually appears in childhood, while Types 2 and 3 appear in early adulthood. Type 1 can cause bone deformities, learning disabilities, and high blood pressure. Type 2 can cause hearing loss, vision loss, and difficulty with balance. Type 3 can cause chronic pain throughout the body. Some cases may not require treatment other than careful observation. Other cases may require chemotherapy, radiation therapy, or surgery. Consult a doctor for medical advice

Symptoms

  • Type 1 can cause bone deformities, learning disabilities, and high blood pressure
  • Type 2 can cause hearing loss, vision loss, and difficulty with balance
  • Type 3 can cause chronic pain throughout the body
  • Attention-deficit/hyperactivity disorder
  • Bone deformities
  • Developmental: learning disability or short stature
  • Enlarged head
  • Pain areas: in the face
  • Pain feeling: pins and needles
  • Ringing in the ears
  • Scoliosis
  • Seizures
  • Sensory: hearing loss
  • Skin: brown spot on skin, armpit freckles, or lumps
  • Vision disorder
  • Whole body: balance disorder or high blood pressure

Treatment

  • Some cases may not require treatment other than careful observation
  • Chemotherapy
  • Cochlear implant
  • Devices
  • Genetic counseling
  • Laminectomy
  • Medical geneticist
  • Neurologist
  • Neurosurgeon
  • Ophthalmologist
  • Primary care provider (PCP)
  • Radiation therapy
  • Spinal fusion
  • Surgery
  • Surgery
  • Therapies
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