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Neurofibromatosis-1 - Overview

Alternative Names

NF1; Von Recklinghausen neurofibromatosis

Definition of Neurofibromatosis-1:

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, incidence, and risk factors:

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.

Neurofibroma

Reviewed last on: 8/7/2008
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.

References

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.

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