Neurofibromatosis
A BIOLOGY PRESENTATION BY JOEL S.
INTRODUCTION
DIAGNOSIS
In order to be diagnosed with neurofibromatosis, you must first tell the doctor your symptoms. The doctor will also look at your family and medical history and order the following tests:
- Physical examination
- Medical history
- Family history
- X-rays
- Computerized tomography (CT) scans
- Magnetic resonance imaging (MRI)
- Biopsy of neurofibromas
- Eye tests
- Tests for particular symptoms, such as hearing or balance tests
- Genetic testing (available for families with documented cases of NF1 and NF2)
SYMPTOMS/COMPLICATIONS
- Cafe au lait spots (flat, light brown spots on the skin)
- Freckling in the armpits or groin area
- Soft bumps on or under the skin (called neurofibromas)
- Tiny bumps on the iris of your eye (Lisch nodules)
- Bone deformities
TYPE 2 (NF2)
- Non cancerous tumors develop on the nerve that carries sound and balance information and this causes hearing loss, ringing in the ears, poor balance
- Vision difficulties due to growth on the retina of the eye and cataracts.
SCHWANNOMATOSIS
- Schwannomatosis does not cause neurological disabilities or cancerous tumors. This condition causes chronic pain, which can occur in any part of the body where growths are present.
COMPLICATIONS:
NF1
- Neurological problems
- visible sign of neurofibromatosis such as cafe au laits spots can cause anxiety and emotional stress
- skeletal problems
- visual difficulties
- increase in neurofibromas
- cancer
NF2
- partial or total deafness
- facial nerve damge
- skin lesions
- multiple brain tumors or spinal tumors
Schwanomatosis may cause severe pain
TREATMENT
IMPACT ON LIFE
SUPPORT GROUPS
"The Mission of the NF Network is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF."
Supports Camp New Friends, an annual NF Children’s camp
Sponsors educational programs for families affected by NF
http://www.ctf.org/- Children's Tumor Foundation
"The Children's Tumor Foundation is a non-profit medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatoses (NF)."
Neurofibromas
A woman's back which shows neurofibromatosis
Bowel
Neurofibromatosis of the bowel
Skin
cafe-au-lait spots; neurofibromas seen on a patients back