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What is
Neurofibromatosis (NF)?
NF is a condition that causes tumors
to grow on nerve tissue, producing skin and bone
abnormalities.
NF is often diagnosed in childhood,
occasionally in infancy, but usually around 3 to 16
years of age. Effects vary within a dramatic and wide
range - some children live almost unaffected by the
condition, while others might be severely disabled,
depending on the number, size, and location of tumors.
NF is a genetic disorder, which means
there is no cure to be found. Stopping NF through
genetic selection techniques is currently the only way
to guarantee the NF genetic code is not passed on.
The symptoms of NF, however, can be
treated in many cases, and research continues to find
more effective ways to deal with NF tumors and the
complications they cause.
Learning disabilities, including
Autism and Aspergers, occur in about half the children
with NF. Parents should keep close
track of the child's progress, and be ready to seek
extra help in the classroom.
Neurofibromatosis
is passed down through the parents' genes, and can
affect the brain, spinal cord, nerves, skin, and other
systems in the body. Other cases of NF occur because a
specific gene spontaneously changes its structure
(mutates). A person with this type of spontaneous
mutation can then pass that gene onto his or her
offspring. There is a 50% chance that a parent with
neurofibromatosis will pass the gene on to a child. NF
does not spontaneously appear after a child is born, nor
is it catching.
Neurofibromatosis is
defined by tumors, called neurofibromas, that grow along
nerves in the body, or on or under the skin. As the
tumors increase in size, they can press on vital areas
of the body, causing problems in the way the body
functions. Neurofibromas often first appear in
childhood, especially during puberty. Many
neurofibromas can be removed. Although usually benign
(non-cancerous), an estimated 3% - 5% become cancerous.
The first noticeable
sign of NF is almost always the presence of brown café
au lait spots (birthmarks). These spots don't hurt or
itch and never progress to anything more serious than
spots. They can be found anywhere on the body. Tiny ones
- freckles - is often seen under the arms or in the
groin area.
Of the two types of NF
- NF1 and NF2 - NF1 is more common, occurring in one of
every 3,000 births and affecting an estimated 100,000
Americans. It was originally known as Von Recklinghausen
Disease.
NF2 is characterized
by the presence of bilateral acoustic neurofibroma-like
tumors and is rarer, seen in 1 in 50,000 births. People
with NF2 usually develop benign tumors on the nerves in
their ears, causing hearing loss, eventual deafness, and
problems with balance.
The severity of both
types of NF varies greatly. In families where more than
one person has NF, it can present with different
physical signs and complications for each person. At the
time of diagnosis, it isn't possible to know right away
whether a case will be mild or lead to severe
complications.
Diagnosis and
Treatment
Neurofibromatosis is
usually diagnosed based on a combination of findings. A
child must have at least two of the following signs to
be diagnosed with NF1:
-
café-au-lait spots
of a certain number, size, and location
-
the appearance of
two or more neurofibromas (often resembling
pea-sized bumps on the skin)
-
Lisch nodules on
the irises
-
an optic glioma
(tumor along the main nerve of the eye that is
responsible for sight)
-
certain skeletal
abnormalities
-
a family member
with NF1
-
freckling under
the arms or in the groin
Tests like MRI's and X-rays may be used to screen for
tumors or evidence of skeletal problems. A child's head
circumference will
be measured, as kids with symptoms of NF can have a
circumference that's larger than normal for their age.
Blood pressure will be monitored. Doctors also take a
detailed personal history, looking for signs of learning
difficulties.
To diagnose NF2,
doctors will check for any evidence of hearing loss.
Hearing tests as well as imaging tests to look for
tumors in the nerves of the ears, spinal cord, or brain
will most likely be performed. Drs will also determine
if there's a family history of NF2.
Genetic testing is now
available for people with a family history of either NF1
or NF2, though such testing is still not 100% sensitive.
Amniocentesis or chorionic villus sampling can sometimes
determine if an unborn child has the condition.
Treatment for NF1
includes removal of the neurofibromas for cosmetic
purposes, treating the complications (see below), and
getting intervention for children with learning
disabilities. Kids will be referred to appropriate
medical specialists to monitor and treat complications,
which may include:
-
seizures (up to
40% of children with NF1 have them)
-
high blood
pressure
-
scoliosis
-
speech impairment
-
optic nerve tumors
(which can cause vision problems leading to
blindness)
-
early or delayed
onset of puberty
Rarely, neurofibromas can become cancerous (3%-5% of
cases). In these occurrences, surgery, chemotherapy,
or radiation may
be necessary.
With NF2, surgeons
will likely need to remove the auditory nerve tumors,
which may cause deafness afterward. When parts of the
auditory nerve are removed, hearing aids won't work.
Currently, researchers
are conducting trials with medications in the hopes
they'll be able to offer more treatment options.
Caring for Your Child
If your child has
already been diagnosed with NF and you notice that a
growing tumor is beginning to cause a problem, tell your
doctor immediately. Any changes or growth of a tumor,
could indicate a problem, which is why people with NF
are closely monitored.
One of the most
important things you can do is get early intervention if
your child has learning disabilities. It also helps to
seek out support groups that can provide your family
with practical advice and encouragement. Talk with your
child's teacher, and stay in close contact with them.
Remember, most people
(about 60%) diagnosed with NF1 have only relatively mild
signs of the disorder, like café-au-lait spots and a few
neurofibromas on the surface of the skin, which require
little or no treatment.
For additional information – contact your doctor, and
head to
http://ctf.org
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