Peter Hibberd, M.D., is a doctor whose advice is based on more than 28 years of hospital outpatient and inpatient experience. He is an experienced emergency medicine physician, surgeon, and consultant. Dr. Hibberd is certified by the American Board of Emergency Medicine. He is also a fellow and active member of the American Academy of Family Physicians, an active member of the American College of Emergency Physicians, and a member and fellow of the American Academy of Emergency Medicine. Dr. Hibberd has earned numerous national and international professional certifications, memberships, and awards.
Tags: neurofibromatosis | type | one | nf | cure

What is NF-1 and is it Curable?

Friday, 11 January 2013 10:54 AM

Question: My brother has been diagnosed with NF-1, which I understand is a genetic illness. Can you explain what it is? Is there a cure?

Dr. Hibberd’s answer:

NF-1 is the abbreviation of neurofibromatosis type 1. NF-1 is an inherited disorder caused by problems with a gene for a protein called neurofibromin, and has no cure. Nerve tissue tumors form called neurofibromas. They are found in the lower layer of skin as well as from the nerves from the spinal cord (nerve roots) and in the nerves from the brain (cranial nerves).

If either parent has NF-1, there is a 50 percent chance that children will have the disorder. This condition is often different from person to person. In some people, the only sign of the condition is the presence of cafe-au-lait spots that look like small birthmarks sometimes associated with freckles under the arm or breast or in the groin area.

Many healthy people may have one to two cafe-au-lait spots, but adults with six or more are likely to have neurofibromatosis. Rapidly growing, painful tumors, or those in places affecting body functions are often excised, and examined.

Unfortunately recurrence of neurofibromas after excision is common. Be sure your brother has had a complete ophthalmology evaluation, and is under the competent care of a physician or neurologist familiar with NF-1. With proper management, the condition doesn’t affect quality of life or life expectancy, despite the problematic cosmetic complications.

© HealthDay

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NF-1 (short for neurofibromatosis type 1) is an inherited disorder and has no cure.
Friday, 11 January 2013 10:54 AM
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