Neurofibromatosis-1 is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the:
NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease.
NF1 also appears in families with no history of the condition. In these cases, it is caused by a new gene change (mutation) in the sperm or egg. NF1 is caused by problems with a gene for a protein called neurofibromin.
Neurofibromatosis causes tissue along the nerves to grow uncontrollably. This growth can put pressure on affected nerves. It can cause pain, severe nerve damage, and loss of function in the area served by the nerve. Problems with feeling or movement can occur, depending on which nerves are affected.
The condition can be very different from person to person, even among people in the same family who have the NF1 gene.
"Coffee-with-milk" (café-au-lait) spots are the hallmark symptom of neurofibromatosis. Many healthy people have 1 or 2 small café-au-lait spots. However, adults who have six or more spots that are bigger than 1.5 cm in diameter (0.5 cm in children) are likely to have neurofibromatosis. In most people with the condition, these spots may be the only symptom.
Other symptoms may include:
A doctor who treats NF1, such as a neurologist, geneticist, dermatologist, or developmental pediatrician will diagnose this condition. The diagnosis will usually be made based on the unique symptoms and signs of neurofibromatosis.
Tests may include:
There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumors are under investigation.
Some children with learning disorders may need special schooling.
For more information and resources, contact the National Neurofibromatosis Foundation.
If there are no complications, the life expectancy of people with neurofibromatosis is almost normal. With the right education, people with neurofibromatosis can live a normal life.
Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.
Some people are treated differently because they have hundreds of tumors on their skin.
Patients with neurofibromatosis have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.
Call your health care provider if:
Genetic counseling is recommended for anyone with a family history of neurofibromatosis.
Annual eye exams are strongly recommended.
NF1; Von Recklinghausen neurofibromatosis
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Friedman JM. Neurofibromatosis 1. In: Pagon RA, bird TD, Dolan CR, et al., eds. GeneReviews. University of Washington, Seattle; 1993.
Sahin M. Neurocutaneous Syndromes. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelston Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 589.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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