Neurofibromatosis

What is it?

Type I neurofibromatosis or Von Recklinghausen's disease is a genetic disease, which can be hereditary or even appear in people without family members affected by it. It can lead to skin alterations with significant aesthetic repercussions, and even internal malformations or tumors.

How does it manifest?

At birth and in the first years of life, neurofibromatosis can manifest itself with only a few, the so-called “café-au-lait spots”. They are so named because they have a characteristic light brown color, generally have an oval shape and are distributed over any area of ​​the skin. Over time, other spots appear on the skin, as well as neurofibromas, lumps or lumps of a soft consistency, which can be from a few to hundreds, causing a considerable aesthetic impact. In addition, neurofibromatosis can cause changes in the eyes, the nervous system and other internal organs.

Diagnosis

It is usually diagnosed by dermatologists or pediatricians, based on a sum of clinical criteria. Patients should present two or more of these criteria:

• Six or more café-au-lait spots, greater than 5 millimeters in prepubertal children and greater than 15 millimeters in children who have passed puberty.
• Two or more neurofibromas.
• Crowe's sign (freckles in the armpits or groin).
• , a type of neural tumor, affecting the optic nerve.
• Two or more Lisch nodules (spots on the iris that should be diagnosed by an ophthalmologist).
• Typical bone injuries.
• History of type I neurofibromatosis in parents or siblings.

Variable manifestations

Having neurofibromatosis can be an extremely serious and disfiguring disorder, or on the contrary, a very mild and little noticeable alteration. This is so because it is a genetic disease with highly variable manifestations in each person. This is called phenotypic expressiveness of the disease. Possessing the genetic alteration does not necessarily imply having a serious disease.

Treatment

There is no treatment to cure a genetic disease of this type. However, a large part of the genetic alterations have been localized and can be detected in patients and their families. At any given time, it is possible to offer genetic counseling to parents affected by the disease and who want offspring. In this case, a study should be carried out in the family by a specialist in the subject (geneticist).

For the rest, it is very important to offer people affected by the disease an exhaustive clinical control aimed at preventing and quickly detecting its manifestations. Some of the tumors that present can be removed, as is the case of large neurofibromas, which cause an aesthetic repercussion, or which compromise a vital organ with its growth.

• Also known as Von Recklinghausen's disease, it is a genetic disease that causes skin changes.
• It manifests itself differently in each person but the most common are spots on the skin.
• It can be an extremely serious and disfiguring disorder.