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1. Overview

Neurofibromatosis is a genetic disorder that disrupts nervous system cell growth, which lead to the formation of tumors on nerve tissue.

These tumors can be located anywhere including the brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or youth.

Cancerous tumors and disease are often not serious but neurofibromatosis effects can range from hearing loss and learning difficulties to cardiovascular complications and cancer.

Fibromatosis treatment’s goal is to prevent disorders of growth and development, but also to manage the complications as soon as they occur.


1. Overview
2. Types of neurofibromatosis
3. Causes
4. Signs and symptoms
5. Diagnosis
6. Treatment
7. Child care

2. Types of neurofibromatosis

There are two types of neurofibromatosis: NF1 and NF2. The NF1 (also known as von Recklinghausen disease) is most common. NF2 occurs rarely and is characterized by the presence of bilateral acoustic neurofibromas essentially comparable with tumors. The severity of both types of neurofibromatosis varies greatly.

In families in which many people suffer from neurofibromatosis, physical symptoms and complications can be different for each patient.

3. Causes

Both types of neurofibromatosis are autosomal dominant genetic disorder, which means that an affected person has a chance of two to passing it to his children.

Neurofibromatosis may be the result of spontaneous changes (mutations) in the genetic material of the sperm or egg at conception in families where there is a history of neurofibromatosis.

NF1 and NF2 are each related to changes of different genes: NF1 gene is located on chromosome 17 and NF2 gene on chromosome 22.

4. Signs and symptoms

NF1 is diagnosed mainly in young children, especially those who experience severe forms of the disease. One of the major events underlying the early diagnosis of NF is the presence of brown spots or pigmented plaques on the skin.

Many people who suffer from NF have these brown spots on the skin, but if a child has five or fewer such spots with a size of at least half a cm, the doctor may look for other signs that may indicate NF.

These include neurofibromas, lisch nodules, small and noncancerous tumors located in the iris. Lisch nodes have no clinical significance except that they help confirm the diagnosis of NF.

Neurofibromas often become evident in various parts of the body, starting from the arms, after the age of 10.

5. Diagnosis

NF is usually diagnosed by the combination of several findings. A child must present at least two of the following symptoms or situations before being diagnosed with NF1:
- Pigmented plaques (cafe-au-lait) of a certain number, size and location;
- Occurrence of two or more neurofibromas;
- Lisch nodules on the iris;
- Optic glioma;
- Certain skeletal abnormalities;
- A family member with neurofibromatosis;
- Freckles on the skin of the arms or in the groin.

In order to detect tumors can be used investigations such as magnetic resonance imaging and X-ray radiography. In children, head circumference should be measured because children with neurofibromatosis may have a circumference abnormally high for their age. Blood pressure will be monitored too.

The doctor will ask details about the personal history related to patient to detect if he shows any learning difficulties. To diagnose NF2, doctors will look for any evidence that might indicate hearing loss.

There will be tests to ascertain whether or not the tumor present in the ear, spinal cord or brain.

The doctor will want to know if there are other cases of NF2 in the family. Genetic tests are now available for people who have a family history of NF1 or NF2. These tests are safe in 90% of the cases.

6. Treatment

Treatment for NF1 includes removal of neurofibroma for cosmetic purposes, treating complications and intervention for children with learning difficulties.

Children will be helped by medical specialists who monitor and treat complications, which may include:
- Hypertension;
- Seizures (up to 40% of children suffer from seizures);
- Scoliosis;
- Language impairment;
- Tumors of the optic nerve (which can cause vision problems and even blindness);
- Early or delayed debut of puberty.

Rarely, neurofibroma can become cancerous (3-5% of cases). In these cases, surgery, chemotherapy or radiotherapy may be necessary. In NF2 case, surgeons must eliminate auditory nerve tumors, which can cause deafness after surgery.

When certain parts of the nerve are removed, hearing aid will not work. Fortunately there is a hearing implant that aid people with NF2 who lost their hearing.

The implant transmits sound signals directly to the brain and allows the person to hear certain sounds and words. Currently, researchers are testing different drugs in the hope that they can discover more treatment options.

7. Child care

The first visible sign of neurofibromatosis is the presence of several plates (spots) pigmented cafe-au-lait. If the child has such spots doctor will require further investigation and search for other signs of NF.

If your child has been diagnosed with NF and parents see that the tumors increase in size, the doctor will be announced immediately. One of the most important things a parent can do for their child is to observe the patient for symptoms to occur since the early stages, especially if the baby has learning difficulties.

Most of the people diagnosed with NF1 have only mild manifestations of the disorder, such as café-au-lait spots and neurofibromas on the skin some that require limited treatment or even no treatment.

Children diagnosed with mild NF who remain fairly healthy until adulthood are less likely to develop serious complications later in life, while children diagnosed with more serious forms of this disease often suffer more correctable complications, but with help and the necessary support, they can live a happy and productive life.



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