Neurofibromatosis: Main Symptoms and Treatments

Nowadays it is possible to cure various diseases that, in the past, were fatal for most of us. Thanks to advances in medicine, we are living in a time when there is really hope of a cure and treatment for several really serious cases.

This is what happens with neurofibromatosis , for example, a genetic disease that affects the body’s nervous tissue, causing several small tumors. This is something that has been a cause of deep sadness and, even though today it still generates a lot of concern, it is already possible to treat the disease and considerably mitigate its effects. But to understand how this is possible, we first have to understand what neurofibromatosis really is.

What is Neurofibromatosis?

It is a genetic disease that manifests itself in a person when he is around 15 years old. Neurofibromatosis is also known as Von Recklinghausen’s disease and it is estimated that there is one case for every 3000 births worldwide.

Its main characteristic is the formation of neurofibromas, which are none other than nerve tumors that appear on the person’s skin. There is also the possibility of appearing dark spots on the skin, in addition to other problems such as skeletal, ocular, congenital and even mental.

Types of Neurofibromatosis

Two types of neurofibromatosis are known, in addition to schwannomatosis, another form of manifestation of the disease that has its origins in a molecular defect, but which is still little known. The two forms of neurofibromatosis are:

  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2

Let’s talk in more detail about each one so you can better understand the differences between the two.

Neurofibromatosis Type 1

It is caused by a change in chromosome 17. In this type of disease, 90% of people are already born with skin lesions or they develop in childhood. The first lesions are dark brown in color and usually appear on the trunk, pelvis and near the elbows and knees.

Subsequently, the tumors appear, in different shapes and sizes, in a number that can vary greatly according to each case. In addition, there is also the possibility of neurological symptoms appearing, such as:

  • Bone wear, which can cause deformations.
  • Scoliosis
  • Vision loss
  • Pseudoartrosis
  • Alteration in arterial walls
  • Macrocephaly
  • Impotence
  • Learning problems

It is not possible to say with certainty what the level of the disease is, nor how these symptoms will manifest in each one without an accurate diagnosis being made. Cases can vary with milder, stronger symptoms or even the absence of many of these symptoms.

Neurofibromatosis Type 2

It is caused by a change in chromosome 22. Its main characteristic is the decrease in the production of merlina, a protein that inhibits the growth of tumors. Some of its symptoms are:

  • Hearing loss
  • Headache
  • Facial Weakness

As with type 1, it is not possible to be sure how the disease will continue to manifest itself in a person without a correct diagnosis being made.

How is the diagnosis made?

There are basically two tests that are done so that neurofibromatosis can be identified in a person, they are CT (Computed Tomography) and MRI (Magnetic resonance imaging). These tests are mainly used to detect the presence of nodules in the head or near the spinal cord. During a woman’s pregnancy, tests may also be done to identify the presence of the mutation in the fetus, if there is a suspicion that this may happen.

How is Neurofibromatosis Treatment Done?

Neurofibromatosis is a disease that, unfortunately, has no cure. But that does not mean that there are no treatments and that it cannot be controlled at any level. The most common is that surgery is performed to remove the largest tumors or even radiotherapy.

In some cases, removal of the tumors makes removal of the nerve completely necessary as well. The removals that must be made are analyzed and decided by a doctor who makes this decision based on the risk that the tumors will progress or even that the disease will become complicated.

Living with Neurofibromatosis

As with many types of diseases that affect a person’s aesthetics, living with neurofibromatosis can be a great psychological challenge . And so that this does not affect the person in a very negative way, it is necessary that there is full support from parents, relatives and close friends so that the person who has the disease does not have major traumas and learns to live with this new condition.

It is not an easy job, since tumors can radically alter a person’s appearance, but it is necessary so that psychological problems are not developed later.

Prevention of Neurofibromatosis

Because it is a genetic disease, there is no prevention so that it does not arise, but there is a way to do a type of prevention in order to prevent major problems from arising , such as skin cancer or the compression of nervous tissue structures. Despite seeming little, prevention is essential for the person’s clinical condition not to worsen.

Although it is impossible to prevent diseases like neurofibromatosis from manifesting, it is also possible to treat and fight the disease in much more efficient ways than it could have been a few years ago.

And certainly this type of treatment only tends to evolve more and more, which is also good news. It is very important to always be in contact with the doctor to assess the situation of each one and, even if it is a rare disease, to know that it exists.

Being aware of its causes, symptoms and treatments is the first step to accepting and understanding how to treat the disease. And so, whoever owns it can also have a normal life, even with all these obstacles.

See also: Learn All About Fibromyalgia

Dr. Alexis Hart
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My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.

Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

Dr. Alexis Hart

My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

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