Question Title: neurosibromatofis

Forum: Neurology Forum
Topic: Neurology - General

Posted by ccf neuro M.D.* on September 13, 1997 at 15:59:29:

In Reply to: neurosibromatofis posted by peter sallmaier on September 06, 1997 at 17:27:26:

Do you have any info on this disease, or, can you suggest a place to find some please?
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Peter, I'm assuming you've misspelled neurofibromatosis and want information about that disorder. There are two major types of neurofibromatosis--- the much more common neurofibromatosis 1 and the much less common neurofibromatosis 2. I will limit most of my answer to NF type 1. NF1 is one of the most common of all known genetic or inherited disorders that produce neurologic disease. The genetic mutation responsible for the disease in on chromosome 17. Features of the disorder used to help diagnose it include:
1) "cafe au lait" or coffee spots, which are pigmented areas that resemble "birthmarks" on the skin
2) neurofibromas, which are tumors that arise within nerves, and are usually benign but very difficult to impossible to operate on without scarificing the affected nerve, since they grow in between the nerve fibers. These may reach enormous sizes in severe cases and be disfiguring.
3) Freckles in the underarm or inguinal (belt) area
4) benign tumors of the optic nerve, which connects the eye to the brain and lets you see
5) Lisch nodules, which are small areas of pigment in the iris of the ey that increase with age in the affected person
6) certain bone and skeletal abnormalities
7) relatives with the disorder, as it is inherited, although as many as half of cases are new or so-called "spontaneous" mutations/cases.

There are other features that may be associated with the disorder, but the ones I've described are the most important and common features.

NF type 2 is a much rarer disorder where tumors of the nerve that lets you hear, the auditory nerve, are the ususal presenting feature.

There is no treatment for the genetic mutation itself, and therapy is directed at individual neurofibroma tumors. Genetic counseling is advisable in known cases of the disease as well.

I would also refer you to an organization called the National Neurofibromatosis Foundation (NNF); whose e-mail address is www.nf.org, and phone number is 212-344-6633; and another organization called Neurofibromatosis Inc. whose phone number is 1-800-942-6825; e-mail NFINC@gnn.com and website members.gnn.com/NFINC/page1.htm; all web addresses are preceeded by "http://" as always.

Information provided on the neurology forum is intended for general medical informational purposes only; actual diagnosis and treatment of your particular medical illness should be strictly in conjunction with your treating physician(s). We hope this information is useful to you.

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