NEUROFIBROMATOSIS

A GENETIC CONDITION

Neurofibromatoses (NF) are a group of disorders that result in abnormal growths along nerves.

NF is an autosomal dominant that may be inherited or may be the result of a spontaneous mutation.

According to some sources, about half of all cases are the result of a spontaneous mutation, the other half are inherited.

Affects all races and genders equally.

TYPES OF NF

NF 1, also known as von Ricklinghausen NF or peripheral NF, primarily affects the peripheral nervous system.

NF 2, or Bilateral Acoustic NF (BAN), primarily affects the central nervous system, particularly the auditory nerves.

Schwannomatosis affects the Schwann cells along nerves.

NF 1 Occurs in as many as 1 in 3,000 births; it is

the most common inherited genetic disorder.

Characterized by presence of café-au-lait spots and neurofibromas on and under the skin.

Enlargement of bones and scoliosis may occur.

Tumors occasionally develop on the brain and central nervous system.

Early signs include the development of café-au-lait spots and Lisch nodules in the eye.

Result of damage to or deletion of the gene that codes for neurofibromin.

About half of persons with NF also have learning disabilities.

May also have bony deformities.

Café-au-lait Spots

Evenly colored, more or less oval, with the long axis situated along a nerve.

Café-au-lait spots can occur with a number of disorders.

Presence of 6 or more of these spots, 1.5cm or greater in diameter, may indicate NF.

LISCH NODULES

Benign tumors on the iris of the eye.

Irises may also show freckling.

PLEXIFORM NEUROFIBROMA

Least common of the neurofibromas.

Involves multiple nerves.

Often appears in infancy, but deeper ones may not show until later in life when they have grown large enough to distort the skin.

NF 2

Not as many outward symptoms as NF 1.

Primary symptom is hearing loss, ringing in the ears, and balance difficulties caused by bilateral acoustic neuromas.

Age of onset is late teens and early twenties.

Occurs in about 1 in 25,000 births.

Result of damage to or deletion of a gene involved in tumor suppression.

SCHWANNOMATOSIS

Occurs in approximately 1 in 40,000 births.

Less well understood because of low number of cases for study.

Characterized by tumors and severe pain. No neurofibromas, and tumors never

occur on the acoustic nerve. Result of overgrowth of Schwann cells,

cells that produce the myelin sheaths on nerve cells.

TREATMENT

No known cure, research is focusing on the molecular pathways governing the proteins involved.

Primarily management of symptoms. Surgery may be useful in removing

problematic tumors, sources do not agree on whether or not this can cause more tumors to form.

In rare cases tumors may become malignant; in these instances surgery, radiation, and chemotherapy may be required.

PROGNOSIS

NF 1 is a progressive disease, with symptoms generally worsening over time. These symptoms are seldom life-threatening and most can expect to live a normal life time.

NF 2 varies greatly. In many cases, the tumors grow slowly over time and symptoms develop over a period of many years. There is some evidence that an early onset leads to faster growing tumor and an increased mortality rate.

Schwannomatosis causes significant pain, much of which can be controlled by medication. In extreme cases, the pain is so severe people cannot work and may become home-bound.

PSYCHOSOCIAL ASPECTS

The more visible and prevalent the tumors are, the more people with NF may be stared at or even worse.

In cases severe enough to keep people home-bound, a lack of connection to the community and friends may develop.

Depression is common, often resulting from a lack of connection more than a lack of acceptance of the disability.

AN INTERVIEW

Client is a 56 year old female diagnosed with NF 1, whose symptoms first appeared in her early twenties.

Currently home-bound, and very frustrated with mild depression.

Worked as a CNA for 30 years and would very much like to return to the profession.

Is proud of her children and grandchildren, they are her greatest joys in life.

Son has inherited the disorder, and there are indications that the two year old grandchild may also have it.

AN INTERVIEW

Does not believe her life would be any different if she did not have the disorder except that she would have more self-esteem.

Since disorder came on after she was out of high school, she didn’t experience the problems of teasing and bullying that many go through and instead remembers being a happy child.

Has had considerable support and acceptance from her family.

AN INTERVIEW

Her faith is strong, she believes she was given this to help educate people about the disorder and about acceptance.

What she would most like people to know about NF is to be accepting of others, that we need to accept people for who they are as a whole, not just focus on one small part of them.

Would like to travel in the coming years. Is saddened and frustrated with being

“retired” at 56.

REFERENCES

Children’s Tumor Foundation: http://www.ctf.org/Living-with-NF/what-is-nf.html

National Institute of Neurological Disorders and Stroke: http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm#130273162

Neurofibromatosis, Inc.: http://www.nfinc.org/nf1.shtml Neurologychannel:

http://livingwith.neurologychannel.com/neurofibromatosis/20090123_7766