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Inherited Disorders and Birth Defects

Facial Identifacation NF1

04/17/2008

Question:

Can you please tell me what NF1 looks like? I have many small raised lumps around my eyes and nose area. They do not hurt but they are increasing in numbers over the years. They started in my early 20`s and I am 50 yrs old now. Can something be done about them. Could this be Recklinghausen?

Thank you in advance for your help.

Answer:

Neurofibromatosis type 1 - NF1 - (also called von Recklinghausen disease) is an inherited disorder that can affect the skin, the nerves and other systems such as the eyes. People with NF1 usually have a number of café au lait spots - these are coffee colored flat birth marks, freckles in the armpits and groin, multiple small tumors of the skin called neurofibromas, and small brown bumps in the iris - the area of the eye that has pigment/color (called Lisch nodules).

Some people with NF1 will have learning disabilities. They can also have scoliosis (curvature of the spine) or other bone problems.

In order to say that someone has NF1, they need to have more than just raised skin bumps. If you only have raised lumps and no other signs of NF, you may not have NF but another type of skin problem that can also cause small raised lumps.

I would recommend that you see a dermatologist or a geneticist to see if you actually have NF1. If you do have NF, I would recommend that you have genetic counseling as NF1 is an inherited disorder. You can ask your doctor for a referral or locate a genetics center near you at the National Society of Genetic Counselors Resource website listed below.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University