All about neurofibromatosis

1. Neurofibromatosis
Brianna Campbell

2. What Is It?
• Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect
many parts of the body, including the brain, spinal cord, nerves, skin, and
other body systems. NF can cause growth of non-cancerous tumors on
nerve tissue, producing skin and bone abnormalities.
• 3%-5% of neurofibromas ever become cancerous
• Two types (N1 & N2)

3. Signs/Symptoms
• First appears most often in children ages 3-16
• Presence of brown café au lait spots. These distinctive spots don't hurt or itch and
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never progress to anything more serious than spots
Learning Disabilities
Bone Deformities
Pain
Numbness and Dizziness
Trouble Sleeping

4. Causes
• Chromosome 17 produces a protein called neurofibromin. Mutation causes
cell growth to go uncontrolled
• Chromosome 22 produces a protein called Merlin which also helps regulate
cell growth, mutation of this causes uncontrollable cell growth

5. Diagnostic Findings & Expected Outcomes
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Usually diagnosed in during a Physical
Eye, Ear, Imaging, and Genetic Testing
Surgery
Cancer
Life with symptoms

6. Complications
• Neurological Problems
• Facial Nerve Damage
• Skeletal Problems
• Spinal Tumors
• Visual Difficulties
• Increase in Neurofibromas
• Cardiovascular Problems
• Cancer

7. Interventions
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Surgeries: Orthopedic, Vascular
Height & Weight should be charted frequently, especially in children
Examine Heart
Check for Skeletal involvement
Treat Symptoms
Reproductive Counseling
Check Skin for lesions
Life long monitoring
Auditory Rehabilitation (Type 2)

8. Medical Personnel
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Family Physician (Ph.D.)
Pharmacist (Ph.D.)
Cardiologist (Ph.D.)
Audiologist (Ph.D.)
Ophthalmologist (Ph.D.)
Orthopedic Surgeon (Ph.D.)
Neurologist (Ph.D.)
Geneticist (Ph.D.)

9. Patient Teachings & Community Resources
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Children's Tumor Foundation
Psychological Counseling
Genetic & Parental Planning Counseling
Get Involved

10. Interview
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How long have you had NF?
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I was diagnosed about 8 years ago
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How often do you experience symptoms?
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Most days I have so much pain in my back that its hard for me to sleep. I don’t get the brown spots on my body anymore but I still get dizzy sometimes and I think my
vision is messed up because of the disease
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Do you take any medications to help your symptoms?
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I used to take a medicine to help slow down the development of tumors on my back but they made me sick to my stomach so I don’t take them anymore. I wear
glasses for my eye sight, and I take pain medication every once in a while for my back. Other than that I don’t take any medicine.
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What type of doctor do you see the most often?
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I just see my regular doctor most of the time and if he has any concerns he sends me in to get an MRI.
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Have you had to have any surgeries related to this disease?
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No
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Do you have any learning disabilities?
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Not that I know of

11. Sources
• "KidsHealth." Neurofibromatosis. N.p., n.d. Web. 25 Dec. 2013.
<http://kidshealth.org/parent/general/aches/nf.html>.
• "Living with NF." CTF. N.p., n.d. Web. 25 Dec. 2013. <http://www.ctf.org/pdf/brochures/NF1Brochure.pdf>.
• "Patient.co.uk - Trusted medical information and support." Patient.co.uk. N.p., n.d. Web. 25 Dec. 2013.
<http://www.patient.co.uk/doctor/Neurofibromatosis.htm>.
• staff, Mayo. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 3 Jan. 2013.
Web. 25 Dec. 2013.
<http://www.mayoclinic.com/health/neurofibromatosis/DS01185/DSECTION=symptoms>.
• Barnett, Tristan. Phone interview. 24 Dec. 2013.
• Korf, Bruce R.. Neurofibromatosis: a handbook for patients, families and health-care professionals. New
York, NY [u.a.: Thieme Med. Publ. [u.a.], 1990. Print.