Neurofibromatosis Type 1 (NF1) accounts for some 90% of neurofibromatosis cases. It is also called Von Recklinghausen disease. Yearly medical exams and eye exams are recommended.
The neurofibromatoses are a part of a group of conditions known as neurocutaneous disorders that affect the skin and the nervous system. (“Neuro” refers to nerves and “cutaneous” refers to skin.)
These types of disorders are caused by abnormal increases in cell growth. This results in the formation of tumors all over the body. In particular, these tumors can grow on nerves, causing problems with the skin, bones, eyes and elsewhere.
There are two main subtypes of neurofibromatoses:
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Neurofibromatosis is generally an inherited disorder of the autosomal dominant kind. This means that only one copy of a mutant gene is needed to produce the condition, and patients have a 50:50 chance of their children getting the disorder.
Neurofibromatosis also can be caused by spontaneous mutation (change) in up to 50% of cases. Once the change in genes happens, it can be passed on to the next generation.
Common signs and symptoms of NF1 include:
There may be other complications associated with NF1, including vascular (blood vessel) conditions that affect the central and peripheral nervous systems. One condition in particular is one that involves arterial narrowing called Moyamoya disease.
NF1 is generally diagnosed by a physical examination. The diagnosis is made by finding a certain number of the signs and symptoms listed previously, such as the freckling under the arm and the bone abnormalities. Someone with NF1 will have two or more of these symptoms and no other disease that can account for them. There is a specialized blood test that can determine if someone has NF1.
At this time, NF1 can’t be cured. However, symptoms can be followed and managed. Because the symptoms differ between people, the management and treatments also may differ.
Neurofibromatosis type 1 produces tumors of the skin, internal organs, and nerves because normal genes that control cell growth are affected. These tumors are treated as follows:
Visit Cleveland Clinic Children's Neurofibromatosis Center or call 216.442.5069 or 800.233.2273 ext. 25069.
Last reviewed by a Cleveland Clinic medical professional on 12/15/2020.
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