1. Running head: NEUROFIBROMATOSIS 1
Neurofibromatosis
Ebony Holden
Bryant & Stratton College
AHLT 125
Boakai Paassewe
June 12, 2015

2. NEROFIBROMATOSIS 2
Outline
What is Neurofibromatosis? Neurofibromatosis is also known as Recklinghausen or peripheral
Neurofibromatosis. It is broken into 2 main stages NF1, NF2 and 3rd rare stage called
Schwannomatosis. Neurofibromatosis is a genetic disorder which tumors form on the nerves.
These can be noticed by changes within the skin and bone disfigurements. (Ferrara, 2010)
Which Part of the Anatomy is affected? The part of the anatomy that is affected is the genetics
within the nervous system. The disease affects how the body will grow and develop. The nervous
system controls the human body and its functions the brain, spinal cord, cranial and general
nerves within the skin are affected. The development of the bones and can indicate some form of
developmental defects. Depending on the severity of the condition auditory nerves and balance
may also be affected. (WebMD, 2015),
Who does this disease affect and how common is it? This disease is gender neutral and
ethnicity or race does not play a factor as well. However, can be inherited from one parent which
makes this disease hereditary. This disorder can also be unplanned and spontaneous within their
genes before birth. Neurofibromatosis type 1 is more common than Neurofibromatosis type 2.
(Ferrara, 2010), (Neurofibromatosis Network, 2011).
What are some signs and symptoms of this disorder? Patients who have light brown spots on
their skin, freckles in the armpit or groin area, growths within the eye (iris), tumors around the
eye nerves (optic) harmless tumors that are under the skin or deep within the body. Some tumors
can be malignant or cancerous. Irregularities of the bones such as the spine and legs. If problems
occur worse a patients loss of hearing, extreme weakness in the muscles of the face, balance will

3. NEROFIBROMATOSIS 3
be off as well as coordination, cataracts, and numbness, tingling and nerve pain (Childrens
Tumor Foundation, 2015).
How is this condition diagnosed? The main way of diagnosing this disorder is by noticing some
of the signs that may link to this condition. A physical examination maybe assessed, medical and
family history may be taken. Imaging test such as magnetic resonance imaging (MRI),
Computerized Tomography Scan (CT), or X-Ray to look at bones, genetic testing, biopsy and
even balance and hearing test can be assessed (WebMD, 2015).
How is Neurofibromatosis treated? Surgery may be performed to remove difficult tumors that
have developed over time or bones that may need to be fixed. Chemo therapy and radiation may
be available if a tumor is malignant or cancerous. Braces can help correct bone structure and
formation such as if a person has scoliosis. Cataract removal strong pain management, physical
therapy, genetic testing and counseling are available. Every treatment is to control the symptoms
of Neurofibromatosis (National Institute of Neurological Disorders and Stroke, 2011).
What is the Prognosis of this disorder? The prognosis for this disorder is minor and people can
live an active life. However, there is no cure and if the stages are severely bad complications can
And may be fatal (National Institute of Neurological Disorders and Stroke, 2011).
Neurofibromatosis is described to be a disorder that consists of tumors that remain on the
nerves within the body. “Neurofibromatosis is a group of inherited developmental disorders of
the nervous system, muscles, bones, and skin that causes formation of multiple, pedunculated,
soft tumors, and café-au-lait spots” (Wilkins, 2013, p. 990). Within this condition there are two
categories that a patient may fall under. NF1 (neurofibromatosis category one) causes growth on
nerve tissues which can be dangerous because it puts compression on the exaggerated nerve
which then causes a reaction. “This can put pressure on affected nerves and causes pain, severe

4. NEROFIBROMATOSIS 4
nerve damage, and loss of function in the area served by the nerve. Problems with sensation or
movement, occur, depending on the nerves affected” (Neurofibromatosis Network, 2011). The
central nervous system and peripheral nervous system is the control center of the human body.
When a nerve is compromised an individual’s ability to function may be challenging. This
condition also plays a role in affecting the developmental process. “Mainly, these disorders
affect the growth and development of nerve cell tissue” (WebMD, 2015). When the
developmental stage becomes interrupted it becomes challenging to function or grasp
information. This case is usually when individuals have a learning disability. Neurofibromatosis
can be identifiable if the person has lightly colored spots on the skin, growth under the skin,
freckles under armpits and groin area, bone deformities and iris lisch nodes which are spots
within the iris just to name a few. A doctor can diagnose a patient if they believe the patient has
two or more signs that could be associated with neurofibromatosis category one. According to
Children’s Tumor Foundation the diagnosing criteria for this condition is as follows:
family history of NF1, 6 or more light brown spots on the skin,
presence of two or more pea-sized bumps on the skin or one or
more plexiform neurofibroma, freckling under the arms or in the
groin area, pigmented bumps on the eyes iris, skeletal
abnormalities such as bowing of the legs or thinning shin bone,
tumor on the optic nerve that may interfere with vision, epilepsy.
(Childrens Tumor Foundation, 2015).
Neurofibromatosis seems to affect individuals who have the symptoms and signs as well
as those whom are genetically attached to this condition. It is usually inherited from one of the
parents who carry the disease or unplanned changes within the sperm or female egg. The risk is

5. NEROFIBROMATOSIS 5
evenly distributed at a 50% chance of a parent who has the disease may pass it down to their
offspring. The only difference between the parent and child or even a person who has NF1 or
NF2 varies in severity. Neurofibromatosis category 1 and 2 are unisex, and does not have
specific ethnical background or age group. “NF-1 and NF-2 occur in both sexes and in all racial
and ethnic groups. In the united states, NF-1 occurs in about 1 of 4,000 persons” (Ferrara, 2010).
Stage one is slightly moderate to mild but can lead to skeletal abnormalities such as sclerosis,
brain and spinal tumors, limb loss, blindness and most importantly it is associated with learning
disabilities. The learning disabilities come from the improper development of the growth
process.
Neurofibromatosis category 2 is uncommon and deals with numerous benign tumors that
lay or grow on the central nervous system. Statistic information from The National Institute of
Neurological Disorders and Stroke says that this disorder affects about 1 in 25,000 people
(National Institute of Neurological Disorders and Stroke, 2011). These tumors usually affect
someone’s hearing (deafness) and or balance. “Complications change vision or sensation,
numbness or weakness in arms and legs, fluid buildup in brain, cataracts in one or both eyes,
often beginning childhood…severe balance problems, facial nerve paralysis, spinal cord
compression, swallowing difficulties” (Neurofibromatosis Network, 2011). The affected areas of
having this disease play a role in the everyday life. This disease can take away or make it
difficult to see, move, and hear and perform other daily activities. Some of the signs and
symptoms of NF2 is the family history, or a chronic condition. “A doctor looks for …bilateral
vestibular schwannomas, family history plus unilateral vestibular schwannoma before age 30, or
any two of the following glioma, meningioma, schwannoma, juvenile cataract” (National
Institute of Neurological Disorders and Stroke, 2011). Schwannmas are tumors that grow on the

6. NEROFIBROMATOSIS 6
peripheral nerves and they are a contributing factor to these problems. In knowing that these
signs and symptoms play a major role in this condition. Doctors can go ahead and assess an
individual who may possibly have this condition. Usually hearing loss or tinnitus (ringing in the
ear) are the first signs that a doctor will notice as well as balance, visual impairment, weakness in
the arms or legs, seizures and skin tumors (National Institute of Neurological Disorders and
Stroke, 2011). If a doctor can carefully diagnose a patient with neurofibromatosis then the next
step will be to treat this condition. The main focus on treating this condition is to keep it
maintained at a manageable state. Keeping this condition controlled makes the severity of these
conditions easier to cope with. The treatment is the same for NF1 and NF2. There are options
when treating neurofibromatosis such as: “surgery to remove tumors, chemotherapy or radiation
if tumor is malignant or cancerous, surgery for bone problems, therapy (physical therapy, or
counseling), cataract removal, and aggressive treatment of associated pain” (WebMD, 2015).
This is a good way to come up with a better solution to help a person cope with this health
disease. Preventive treatments such as gene testing are another good source to utilize. “Gene
linkage testing is available for families with NF1 and NF2” (Childrens Tumor Foundation,
2015). This is helpful because it will give an estimated percentage of actually getting the NF
disease down the line.
The last part of the neurofibromatosis is schwannomatosis. This is a very unusual
condition. It is the development of tumors on the brain, spinal and eyes, however they do not lose
hearing and there is no tumor or growth on or in the ear. “People with schwannomatosis develop
multiple schwannomas on cranial, spinal, and peripheral nerves but they do not develop
vestibular tumors and do not go deaf…develop any other tumors or learning disabilities”
(Children’s Tumor Foundation, 2015). An individual may have great signs and symptoms of pain

7. NEROFIBROMATOSIS 7
or problems in a localized area. This is how doctors are able to notice that there must be a reason
for these symptoms.
According to Neurofibromatosis Network the best way to diagnose a person with this
condition “one must be over the age of 30, has two or more non-intradermal schwannomas, one
histological confirmation, no evidence of vestibular tumor on high MRI scan, and has no known
constitutional NF2 mutation” (Neurofibromatosis Network, 2011). After properly diagnosing a
patient, doctors then out the best treatment to control the condition. “There is no currently
accepted medical treatment or drug for schwannomatosis” (Neurofibromatosis Network, 2011).
Lastly the prognosis for the neurofibromatosis (NF1, NF2 and schwannomatosis) is something
that can get very severe and result in death but overall this condition is manageable and can be
short lived, long lasting or fatal. The National Institute of Neurological Disorders and Strokes
states that:
NF1 are mild, and individuals live normal and productive lives…however, NF1
can be severely debilitating and may cause cosmetic and psychological issues.
NF2 varies in some cases the damage to nearby vital structures, such as other
cranial nerves and the brain stem, can be life threatening. Most individuals with
schwannomatosis have significant pain. In some extreme cases the pain will be
severe and disabling (National Institute of Neurological Disorders and Stroke,
2011).
Although being diagnosed with neurofibromatosis this condition has its good and its bad but
overall with the right treatment and managed care an individual may be able to live a more active
lifestyle.

8. NEROFIBROMATOSIS 8
References
Childrens Tumor Foundation. (2015). Learn about NF . Retrieved from Children's Tumor
Foundation: http://www.ctf.org/
Ferrara, M. H. (2010). Neurofibromatosis. In M. H. Ferrara, Human Diseases and Conditions
2nd ed. (pp. 1179-1181). Detroit, NY: Charles Scribner's Sons/ Gale Cengage Learning.
National Institute of Neurological Disorders and Stroke. (2011, May). Neurofibromatosis Fact
Sheet. Retrieved from National Institute of Neurological Disorders and Stroke:
http://ninds.nih.gov/disordes/neurofibromatosis/detail_neurofibromatosis.htm
Neurofibromatosis Network. (2011). NF Network What is NF 1? Retrieved from
Neurofibromatosis Network: www.nfnetwork.org/understanding-nf/what-is-nf/nf-1
WebMD. (2015, April 27). Neurofibromatosis 1 and 2: symptoms, treatment, causes. Retrieved
from Web MD: www.webmd.com/pain-management/neurofibromatosis
Wilkins, L. W. (2013). Professional Guide To Diseases 10th ed. Philadelphia: Wolters Kluwer
Health, Lippincott Williams & Wilkins.