Essay - Neurofibromatosis Fact Sheet Definition Neurofibromatosis Affects the Nervous System and...

Neurofibromatosis Fact Sheet

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Neurofibromatosis affects the nervous system and the skin. "NF is sometimes called elephant man's disease after the Englishman Joseph Merrick, whose disfigurement was mistakenly thought to have been caused by NF. In the 1980's, experts concluded that Merrick actually had a rarer disease ***** Proteus syndrome." (Rubenstein, 2006) NF may range in severity from a mild disorder ***** a life-threaten*****g ***** severely disfiguring ailment. There are two forms of the disorder, called NF-1 and NF-2.

Etiology—causes

This disease is an incurable, inherited disorder. In 1990, researchers identified the gene responsible for NF-1. They discovered that the gene produces a protein, ***** neurofibromin that may cause the disorder. (Rubenstein, 2006) If researchers c***** repair ***** gene, they ***** be able to find a *****ure for the illness. Until then, at *****st, the disease can be contained. "Although many affected persons inherit the disorder, *****tween 30 and 50 percent of new cases arise spontaneously through mutation (change) in an *****dividual's genes. Once this change has taken place, the mutant gene can be passed on ***** succeeding *****rati*****s." ("NINDS: Neur*****ibromatosis ***** Sheet," NIH, 2006)

Symptoms/characteristics/types

NF-1 is also called "Von Recklinghausen's d*****ease." It is ***** more common of the two types. It is also less severe than NF-2. The major signs of NF-1 ***** flat, light brown spots on ***** ***** ***** cafe-au-lait spots. People with NF-1 also have frequent benign tumors ***** their nerves. These tumors, "called neurofibromas, often develop just beneath the surface of the skin, producing small to large skin growths. Tumors may affect many o*****r parts of the body, including the bones." (*****, 2006) The ***** spots are usually present at birth. ***** ***** ***** appear at puberty. In contrast, NF-2, also called bil*****eral acoustic neurofibroma*****sis, is characterized ***** tum*****s in ***** brain, on the spinal cord, and on the nerves that c*****trol hearing. The tumors may lead to deafness, chronic headache, vision problems, partial paralysis, and, eventually, death. ***** first ***** of NF-2 usually appear in the teens or early twenties.

Incidence/prevalence/issues ***** identification

***** occurs in about 1 out ***** every 4,000 births. NF-2 is less common than NF-1. It occurs in ***** 1 ***** of every 50,000 births. The child of a person with NF h*****s a 50 percent chance of inheriting the *****. However, about half of all NF victims have no family h*****tory of the disorder. (Rubenstein, 2006) To determine whether an individual has NF2, a physici***** looks ***** bil*****teral eighth nerve tumors ***** similar signs and symptoms in a p*****rent, sibling, or child. ("*****: Neurofibromatosis Fact Sheet," NIH, 2006)

Associated conditions, treatment/intervention strategies/ life needs

Many people with NF-1 have scoliosis, or curvature of the spine. In some cases, tumors ***** vital organs. ***** ********** cases, ***** can be life threatening. There is no treatment other than surgical removal of the tumors. (Rubenstein, *****) "Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and remove painful or d*****figuring tum*****s;