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?

Rare

How long can individuals live with this disorder?

People can live, long, healthy lives with the disease, most go unaffected by it


What are the treatments for this disorder?

There is no ‘cure’ for neurofibromatosis, only focusing on how to treat the symptoms and make them less malignant and noticeable