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 | elephant

What is NF-1 and How is it Treated?

Friday, 07 December 2012 09:45 AM

Question: Thank you, Dr. Hibberd, for you excellent column. I have neurofibromatosis-1, commonly known as NF-1. It is an inherited condition that has caused painful tumors to grow under my skin. What is the best treatment?

Dr. Hibberd’s answer:

Neurofibromatosis (NF-1) used to be called Von Recklinghousen's disease and affects one in 3,500 people. Some are very mild cases, some with no symptoms, while others become rapidly disabling. It is a genetically inherited disorder — involving a gene on the long arm of chromosome 17 that plays a role in cell division control and signaling.

But 50 percent of new cases seem to be spontaneous gene mutations. It can produce skin freckling in unusual locations, such as the groin and armpit, or unusual birthmark-like patches called cafe au lait spots. Most people will recognize the far advanced varieties of this disorder from films and movies depicting characters with the frightening proliferation of skin bumps (neurofibromata) — as in “The Elephant Man.”

There is no cure or treatment at present. Management of this condition revolves around management of the complications of this condition and its associated increased risks for scoliosis, learning delays, seizure disorders, and depression. Selective removal of skin bumps can be done, especially if they are painful or disfiguring. But they tend to recur.

Be sure you have a trusted family or internal medicine physician who has an awareness and sensitivity for your condition, and who can periodically monitor you for unexpected and expected complications.

© HealthDay

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Neurofibromatosis can range from very mild cases, with no symptoms, to a disabling condition.
Friday, 07 December 2012 09:45 AM
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