Neurofibromatosis

A few months ago, my doctor noticed that I had some cafe au lait freckles in my axillary regions. None of them are very large. The larger freckles are in other places, but none of them are more than 10-12 mm, and I don't have many. I've also got "eye freckles" on my sclera, but no real eye problems. But my doctor brought up that the freckles are a symptom of NF. A few weeks after that visit, I noticed that I had a couple of little "bumps" on my face. They haven't gone away yet and they are irregularly shaped. They're small, but I'm worried that they might be neurofibromas. Should I have some testing done to determine if I have NF? What kind of options are there? I'm only 18 and no one else in my family has it.

[Lisa Kessler, MS, CGC]

As you have learned, Neurofibromatosis type 1 (NF1), is a genetic condition that is characterized by very specific findings.  People with NF1 have several café au lait spots (brown spots on the skin with regular boarders), freckles under the arms or in the inguinal area, multiple neurofibromas, and lisch nodules of the iris (which you refer to as “eye freckles”.  The diagnosis of NF1 can be made by a medical geneticist’s exam.  You can find a geneticist through the American College of Medical Genetics.  A geneticist can help determine if the bumps on your face are neurofibromas or not.  Genetic testing is also available for NF1, but the diagnosis is often made based upon the specific findings of the clinical exam.  

NF1 is inherited in an autosomal dominant way.  Someone with NF1 has a 50% chance of passing on NF1 to each child, but the features of NF1 can be very different even within the same family.  Half of people who have NF1 are the first in their family to have this condition.  Best wishes to you.  

[LukeL]

I have  NF, if you fit two of the major six criteria, you more likely than no,t do have NF. You most likely also have the cafe au lait spots any where on your body. Testing is rather pointless as it won't change the course of treatent, but could help you if you are considering having children in the future.

Just be on the look out for sudden pain and change in a neurofibroma (rapid growth) as this could indicate cancer, although this is rare (5% of all patients) and usually happens later on in life.

[greenmnm]

I'm a bit late but I thought I'd post a reply anyway.

The 'eye freckles' you refer to, if they are on your sclera, the white part, those aren't the lisch nodules that'd qualify as one of the criteria for NF diagnosis.  Lisch nodules only occur on the pupil, the colored part.  Based on my personal experience, lots of eye doctors miss or can't see them even though they are there and actually eye freckles and lisch nodules are separate entities.  It's not just a different spot(s) of color, lisch nodules are actually raised.

Neurofibromas on the skin are usually round, not irregular.  They can be irregular if they are plexiform neurofibromas, but those aren't just 'bumps' and what you are describing doesn't sound like a PN.

If you really want to find out for sure, I'd goto a NF specialist which you can find a directory of at the Children's Tumor Foundation webpage.

For NF 'treatment', you basically deal with the symptoms as they arise... neurofibromas can be removed surgically but so far, no drugs have known to be effective in reducing the tumor size.  So unless you hare having problems, you just monitor and watch for any progression.

hth