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Diseases & Conditions

Neurofibromatosis

Neurofibromatosis is part of a group of conditions known as neurocutaneous disorders; these types of disorders are caused by abnormal cell development and result in the formation of tumors. These tumors can grow on nerves, causing problems with the skin, bones, eyes, and elsewhere.

There are two main subtypes: neurofibromatosis type 1 (NF1), which accounts for about 90% of all cases of neurofibromatosis, and neurofibromatosis type 2 (NF2), which is much less common. Neurofibromatosis is generally an inherited disorder, but can be caused by spontaneous mutation. Once the change in genes happens, it can be passed on.

Neurofibromatosis 1 (or NF1) occurs in about one in 3,000 to 4,000 births; the incidence of NF2 is much less. NF1 is also called von Recklinghausen disease after a German pathologist involved in identifying the composition of tumors associated with NF1.

What are some signs or symptoms associated with NF1?

  • Café-au-lait spots (also called macules): These are flat patches of light brown or coffee-colored skin. Initially, they might be present on an infant and look like freckles, but may get bigger in size and more numerous during a child’s first few years of life. A child with NF1 is likely to have at least six or more of these spots bigger in size than freckles. The spots themselves are not painful, and people who do not have neurofibromatosis can have one or two café-au-lait spots.
  • Lisch nodules: These are small noncancerous tumors located on the iris (the colored part) of the eyes. Lisch nodules do not cause problems with vision, but tumors might later develop in the eye. These tumors are called optic gliomas; they may or may not affect vision.
  • Neurofibromas: These are noncancerous tumors that are located mostly on top of or under the skin. Neurofibromas may also grow on nerves. Some people who have NF1 do develop cancerous tumors on nerves, called malignant peripheral nerve sheath tumors (MPNST). A therapy that targets MPNST is pirfenidone.
  • High blood pressure (hypertension)
  • Shortness (height)
  • Macrocephaly (having an unusually big head)
  • Bone abnormalities, such as scoliosis or tibial bowing
  • Learning disabilities
  • Attention deficit hyperactivity disorder (ADHD)
  • Seizures
  • Speech problems
  • Many freckles under the armpit or in the groin region

There may be other complications associated with NF1, including vascular conditions affecting the central and peripheral nervous systems.

How is neurofibromatosis type 1 treated?

NF1 can not be cured at this time, but symptoms can be followed and managed. It is important to evaluate and identify tumors associated with NF1. It is recommended that a person with NF1 has at least one annual regular medical follow-up examination, along with an annual ophthalmologic examination.

Surgery can remove disfigurements caused by neurofibromas. Recent studies have indicated that the cholesterol drug lovastatin may be useful in treating learning disabilities and ADHD. A person with NF1 and his or her family may find psychological and social support, and possibly genetic counseling, useful.

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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 6/4/2009…#14422