Although neurofibromatosis is a genetic disease, which has already been born with the person, it can take several years for symptoms to develop and do not appear the same in all those affected.
The main symptom of neurofibromatosis is the appearance of soft tumors on the skin, such as those shown in the image:
However, depending on the type of neurofibromatosis, other symptoms may include:
Neurofibromatosis type 1 is caused by a genetic modification of chromosome 17, which causes symptoms such as:
This type usually occurs in the first years of life, before the age of 10, and is usually of moderate intensity.
Although less common than neurofibromatosis type 1, type 2 is the result of a genetic modification of chromosome 22 and signs may be:
These symptoms usually appear in late adolescence or early adulthood and may vary in intensity, depending on location.
This is the rarest type of neurofibromatosis that can cause symptoms such as:
These symptoms are most common after age 20, especially between the age of 25 and 30.
Diagnosis is made by observing lumps in the skin, and by genetic x-rays, CT scans, and blood tests, for example.This disease can also cause color differences between the patient’s two eyes, an alteration called heterochromia.
The biggest risk factor for neurofibromatosis is having other cases of the disease in the family, as nearly half of those affected inherit genetic impairment from parents; However, the genetic mutation can also occur in families who have never had the disease before, making it difficult to predict whether the disease will appear.