Neurofibromatosis
By Kaitlin Cusick
How is this disorder passed on?
Neurofibromatosis is normally passed down through genes, inherited by family that has had the disease. So basically, if your Mom or Dad has had the disease, they could have passed it on to you.
What are the symptoms?
Several (usually six or more) cafe au lait spots
Multiple freckles in the armpit or groin area
Tiny growths in the iris (colored area) of the eye; these are called Lisch nodules and usually do not affect eyesight
Neurofibromas that occur on or under the skin, sometimes even deep within the body; these are benign (harmless) tumors; however, in rare cases, they can turn malignant or cancerous
Bone deformities, including a twisted spine (scoliosis) or bowed legs
Tumors along the optic nerve, which may cause eyesight problems
Nerve-related pain
Loss of hearing
Weakness of the muscles of the face
Dizziness
Poor balance
Uncoordinated walking
Cataracts (cloudy areas on the lens of the eye) that develop at an unusually young age
How is this disorder diagnosed?
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
How often does it occur?
Occurs in 1 in 3,000 to 4,000 individuals in the United States
Is it rare or common?
How long can individuals live with this disorder?
People can live, long, healthy lives with the disease, most go unaffected by it