NEUROFIBROMATOSIS This page is about NF1.

What is it?

Many things are written about this disease. I'll try to explain in my own words.

General

Neurofibromatosis, also called Von Recklinghausen Syndrome, is a hereditary disorder of the nerves, but the disease can also arise spontaneously, see further in this article. It is estimated that approximately 1 in 3,000 people have the disease. In the Netherlands about 5000.

Normally, the protective layer around the nerve is the same everywhere. The protein Neurofibromin regulates the production and stopping of the growth of this protective layer. In NF1 this is disrupted and uninhibited growth of this protective layer can take place in certain places. You will then see a bump or fibroid on the skin (see photo). This situation can occur throughout the body. Visible on the skin, but also in the body.

The course of the disease is very different and not predictable. You may not be bothered by it for a long time and suddenly it gets worse and you get more complaints such as headache, numbness of the skin, paralysis, worsening of the fibroids.

Fibroids

The bumps in and on the body are also called fibroids or neurofibromas. They consist of connective tissue and are attached to the nerves. They can occur in, among other things, the brain and the spinal cord. They can put so much pressure on vital parts of the brain that behavioral or learning problems can arise. The fibroids can pinch important nerves in the spinal cord, preventing signals from being transmitted properly. You then get a partial spinal cord injury, partial paralysis, numbness of the skin, etc.

Hereditary / Spontaneous Mutation

It is a hereditary disease, so it is not contagious. You inherit the disease from your parents, but it can also arise spontaneously. The trait for the disease is on chromosome #17.

Before fertilization Above you see a diagram with the properties of the gene on chromosome #17 of the man and woman. In normal cells, the chromosomes are paired (2N). In sex cells they are single (1N). When the sex cells come together, they form a pair again (2N). Normally you inherit the traits from your parents in which the dominant gene is expressed.

Two examples:
E.G. 1
[BROWN EYES - blue eyes] Brown is written in capital letters is dominant. Blue is written in lower case and is recessive. They call this situation heterozygous. The offspring will then have brown eyes.

E.G. 2
[blue eyes - blue eyes] We call this situation homozygous, the recessive gene is now expressed. The offspring will have blue eyes. In spontaneous mutation, a new trait is created.

Above you can see that the chromosomes match again. My parents both have no fault in the gene. In the picture you suddenly see an error in the gene (colored red). These changes occurred 'spontaneously' after the pairing of chromosome 17. I have even created a situation where one is an 'error' and the other is not (hetrozygous). The gene that is red is dominant and will be expressed. The NF gene is dominant.

Characteristics / Variants

The bumps come in many shapes and sizes:
Big, small, hard or soft. When bumped it can hurt terribly. They can also cause pain or itching of their own accord. Some fibroids can be removed, but if this is not done correctly, they can come back. Then you also have fluid vacuoles, which are cavities in the spinal cord filled with fluid. These cavities can also jam the case, preventing signals from getting through properly. There is no method to remove it.

Another manifestation is Café-au-Lait spots (see photo). That is a pigment change on the skin, it is large spots or a lot of small ones of a few millimeters. Also called 'freckling'. It doesn't hurt or bother you. Abnormalities can also occur in the eyes: Lisch Nodules or Lisch lumps. The ophthalmologist can see these, they are bumps that usually do not bother you.

Want to know more?
Website: neurofibromatose.nl
Wikipedia NF-1

Source:
Neurofibromatose.nl
Doctors, Wikipedia, Articles.