What is neurofibromatosis?

Causes and Symptoms

Most infants born with neurofibromatosis, which is also known as Von Recklinghausen disease, have few symptoms until puberty. Disease progression and signs and symptoms vary from mild (in about one-third of affected children) to moderate and severe disfigurement and organ failure. The disease causes abnormal growths of nerve tissue along the peripheral nerve tracts of the head, neck, trunk, and extremities, usually involving the brain and spinal cord (the central nervous system) later. These so-called neurofibromas appear as multiple, visible growths lying beneath the skin. Also typical are the many areas of deeply pigmented skin, known as café-au-lait (coffee-and-milk) spots. In addition, severely disfiguring bone defects of the skull and spine can be caused by neurofibromas.

Some patients lead nearly normal lives, with only cosmetic problems from the café-au-lait spots and visible neurofibromas. Most patients, however, experience serious consequences from deep growths and skeletal deformities. Depending on the size and location of these tumors, they can cause blindness, deafness, developmental disorders, seizures, pain, and paralysis. Other organs, especially the kidneys and glands, are frequently damaged as well. The most feared complication is the transformation of these benign tumors into cancerous ones.

Treatment and Therapy

No cure exists for neurofibromatosis. Supportive therapy includes surgical removal of the neurofibromas and reconstructive plastic surgery for the sometimes severe disfigurement that can result from deep tumors and bone deformities. The skull, spine, and eye sockets are particularly affected. Social isolation and embarrassment are serious problems with neurofibromatosis, and counseling is essential. The prognosis is variable depending on the size and location of the tumors. Both cancer and organ failure can shorten the patient’s life.

Because neurofibromatosis is genetic, occurring in one in three thousand births, genetic analysis of the parents is essential if there is a family history of the disease. Prenatal testing can determine if the fetus has inherited the defect. Research is now focusing on correcting the genetic error in the developing fetus.

Bibliography

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Children’s Tumor Foundation. http://www.ctf.org.

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Daube, Jasper R., ed. Clinical Neurophysiology. 3d ed. New York: Oxford University Press, 2009.

Korf, Bruce R., and Allan E. Rubenstein. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals. 2d ed. New York: Thieme Medical, 2005.

"Learning About Neurofibromatosis." National Human Genome Research Institute, September 16, 2012.

"Neurofibromatosis Fact Sheet." National Institute of Neurological Disorders and Stroke, January 13, 2012.

Nicholls, John G., A. Robert Martin, and Bruce G. Wallace. From Neuron to Brain. 4th ed. Sunderland, Mass.: Sinauer, 2007.

Rosenblum, Laurie. "Neurofibromatosis." Health Library, August 30, 2012.

Victor, Maurice, and Allan H. Ropper. Adams and Victor’s Principles of Neurology. 9th ed. New York: McGraw-Hill, 2009.