Nowadays, it is possible for us to be cured of many diseases that, in the past, were fatal for most of us. Thanks to advances in medicine, we are living in a time where there is real hope for cure and treatment for several truly serious conditions. This is the case with neurofibromatosis, for example, a genetic disorder that affects the nervous tissue in the body, causing several small tumors. This is something that used to be a source of deep sadness and, although it still causes much concern today, it is already possible to treat the disease and considerably ease its effects. But to understand how this is possible, we must first understand what neurofibromatosis actually is.

What is Neurofibromatosis?

This is a genetic disorder that manifests in a person around the age of 15. Neurofibromatosis is also known as Von Recklinghausen disease, and it is estimated that there is one case for every 3,000 births worldwide. Its main characteristic is the formation of neurofibromas, which are nothing more than nerve tumors that appear on the person’s skin. There is also the possibility of dark spots appearing on the skin, along with other problems such as skeletal, ocular, congenital, and even mental issues.

Types of Neurofibromatosis

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

  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2

Let’s talk in more detail about each of them 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 the disease, 90% of people are already born with skin lesions, or they develop them during childhood. The initial lesions are dark brown and usually appear on the trunk, pelvis, and near the elbows and knees. Later, tumors appear in various forms and sizes, and the number can vary a lot depending on the case. In addition, there is also the possibility of neurological symptoms appearing, such as:

  • Bone thinning, which can cause deformities.
  • Scoliosis
  • Vision loss
  • Pseudoarthrosis
  • Arterial wall changes
  • Macrocephaly
  • Impotence
  • Learning problems

It is not possible to determine for certain the severity of the disease, nor how these symptoms will manifest in each individual without a precise diagnosis. The cases can vary, with milder, more severe, or even absent symptoms.

Neurofibromatosis Type 2

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

  • Hearing loss
  • Headache
  • Facial weakness

Just as with type 1, it is not possible to know for certain how the disease will continue to manifest in a person without proper diagnosis.

How Is the Diagnosis Made?

There are basically two tests used to identify neurofibromatosis in a person: 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 can also be done to identify the presence of the mutation in the fetus if there is suspicion that this might be the case.

How Is Neurofibromatosis Treated?

Neurofibromatosis is a disease that, unfortunately, has no cure. But that does not mean there are no treatments or that it cannot be controlled to some extent. The most common approaches are surgery to remove larger tumors or even radiotherapy. In some cases, removing the tumors also means it is necessary to remove the entire nerve. The removals that need to be done are analyzed and decided by a doctor who makes the decision based on the risk of tumor progression or disease complications.

Living with Neurofibromatosis

As with many conditions that affect a person’s appearance, living with neurofibromatosis can be a major psychological challenge. And so this does not affect the person too negatively, it is important that there is complete support from parents, relatives, and close friends, so that the person with the disease does not suffer major trauma and learns to live with this new condition. It is not an easy task, since the tumors can radically change a person’s appearance, but it is necessary to prevent psychological problems from developing later.

Prevention of Neurofibromatosis

Since it is a genetic disease, there is no way to prevent its onset, but it is possible to take measures to prevent more serious problems from arising, such as skin cancer or compression of nervous tissue structures. While it may seem limited, prevention is essential so that the person’s clinical condition does not worsen. Although it is impossible to prevent diseases like neurofibromatosis from appearing, it is also possible to treat and fight the disease much more effectively than was possible in the past. And certainly, this type of treatment is only going to become more advanced, which is also good news. It is very important to always be in contact with a doctor to assess each situation and, even though it is a rare disease, to know that it exists. Understanding its causes, symptoms, and treatments is the first step to accepting and learning how to treat the disease. And this way, those who have it can also live a normal life, despite all these obstacles. See Also: Learn All About Fibromyalgia Photo: Klaus D. Peter