Neurofibromatosis: Symptoms and Treatments
Neurofibromatosis is a rare genetic disorder that usually manifests itself with the presence of dermatological (skin) lesions and / or involvement of the nervous system.
There are no symptoms of neurofibromatosis. several ways in which neurofibromatosis can manifest in the nervous system, sometimes benign or malignant, but usually this is due to the finding of tumors that can compromise hearing, vision, motor, language, among others. These tumors are known as gliomas, meningiomas, or schwannomas.
Types of Neurofibromatosis
- Neurofibromatosis type 1 : most frequent, beginning in childhood and resulting from a mutation (genetic alteration) in chromosome 17. Levi coffee-and-milk stain on the skin of the affected person, in addition to the fibroids that are tumors that grow as nodules from the lower layers of the skin
- Neurofibromatosis type 2 : less common, due to genetic alterations in chromosome 22 and usually manifests with hearing impairment due to the growth of benign tumors in the vestibulocochlear nerve, which is responsible for hearing.
Symptoms of Neurofibromatosis
Symptoms of neurofibromatosis will depend on the type of disease and the presence or absence of tumors in the system nervousness beyond skin changes. There may be large variations between individuals, some with many symptoms and others with almost no symptoms from the disease.
In cases of Neurofibromatosis type 1, the most common symptoms are brown spots on the skin, small lumps under the skin, and development, and deformation of bones.
In cases of Neurofibromatosis type 2, the most common symptoms are balance difficulties, gradual reduction of vision or hearing, spinal problems such as scoliosis and vision and hearing problems. Unfortunately, there is still no cure for neurofibromatosis, but the sooner it is detected, the easier it will be to follow this patient, since any symptom will be readily identified (be it neurological, cutaneous or other segment of the body), and the possibility of some treatment may be offered with a better chance of benefit.
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