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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.
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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.
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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 caféau-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.
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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.
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Benign tumors on the
iris of the eye.
Irises may also show
freckling.
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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.
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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.
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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.
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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.
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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.
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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 homebound, 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.
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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.
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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.
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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.
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Children’s Tumor Foundation: http://www.ctf.org/Living-withNF/what-is-nf.html
National Institute of Neurological Disorders and Stroke:
http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofi
bromatosis.htm#130273162
Neurofibromatosis, Inc.: http://www.nfinc.org/nf1.shtml
Neurologychannel:
http://livingwith.neurologychannel.com/neurofibromatosis/20090123_7
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