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Alternative Names Return to topNF1; Von Recklinghausen neurofibromatosis
Definition Return to top
Neurofibromatosis-1 is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the skin, bottom layer of skin (subcutaneous tissue), and nerves from the brain (cranial nerves) and spinal cord (spinal root nerves).
Causes Return to top
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 previous history of the condition, as a result of a new gene change (mutation) in the sperm or egg. NF1 is caused by abnormalities in a gene for a protein called neurofibromin.
Symptoms Return to top
Neurofibromatosis causes unchecked growth of tissue along the nerves. This can put pressure on affected nerves and cause pain, severe nerve damage, and loss of function in the area served by the nerve. Problems with sensation or movement can occur, depending on the nerves affected.
The condition can be very different from person to person, even among people in the same family who have the NF1 gene.
The "coffee-with-milk" (café-au-lait) spots are the hallmark symptom of neurofibromatosis. Although many healthy people have 1 or 2 small café-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis. In most people with the condition, these spots may be the only symptom.
Other symptoms may include:
Exams and Tests Return to top
Diagnosis is made by a doctor familiar with NF1, including a neurologist, geneticist, dermatologist, or developmental pediatrician. The diagnosis will usually be made based on the unique symptoms and signs of neurofibromatosis.
Treatment Return to top
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.
Support Groups Return to top
For more information and resources, contact the National Neurofibromatosis Foundation.
Outlook (Prognosis) Return to top
If there are no complications, the life expectancy of people with neurofibromatosis is almost normal. With the right education and job expectations, people with neurofibromatosis can live a normal life.
Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder in a small number of patients. 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.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if:
Prevention Return to top
Genetic counseling is recommended for anyone with a family history of neurofibromatosis.
Annual eye exams are strongly recommended.
References Return to top
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Haslam RHA. Neurocutaneous Syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelston Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.Update Date: 8/7/2008 Updated by: Diana Chambers, MD, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, Univresity of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.