Neurofibromatosis

By: Grace DuRocher

Neurofibromatosis 1

A genetic disease that causes the growth of tumors in your nervous system.


Other names for this disease include Recklinghausen Disease or NF.


Other varieties of this disease include Neurofibromatosis 2 and Schwannomatosis.

Cause of the Disease

This disease is caused by a mutation in chromosome 17.


Chromosome 17 contains the gene that creates the protein neurofibromin, which regulates the growth of cells. The change in the gene results in the loss of neurofibromin, which causes the body's cells to grow uncontrollably.

Who has neurofibromatosis?

The mutation that causes the disease occurs at random or can be inherited from parents with the gene. In most cases it is inherited.


It is a congenital disease and occurs equally in males and females and all ethnicities and races.


The disease is an autosomal dominant disorder, so the child of a person with neurofibromatosis has a 50% chance of also having the disease.

Some Symptoms include...

- flat, light brown spots on the skin

- freckling in the groin and armpit areas

- tiny bumps on the iris

- soft bumps on or under the skin

- bone deformities

- vision loss

- learning disabilities

- larger than average size head

- short height

Prevention

This disease can't be prevented because it is a gene mutation which can't be controlled.


People with the disease can have children, but genetic testing is recommended for anyone with neurofibromatosis in their family history.


The children of a parent with neurofibromatosis have a 50% chance of inheriting the disease.


Prenatal testing is available if the pathogenic variant in the family is known.

Treatment

There are many treatments for the symptoms, but the disease can’t be cured. There are surgeries to have the tumors removed and stereotactic radio surgeries that use radiation to remove tumors.


Depending on the where the tumors grow and the patient’s symptoms, the affected child may need surgery to remove tumors. They may also need special schooling if they experience a learning disability.


The treatment basically stays the same throughout the affected person's life and varies depending on the symptoms the person endures.

Long-Term Outlook

All treatment and outcomes depend on where the tumors grow. Growth in the spinal cord or brain will cause more problems than growth on the skin. Although fortunately, most cases have mild to moderate symptoms and very few have major problems.


Therefore, if there are no complications the affected child will live a fairly normal life.



People with neurofibromatosis may be affected by learning disabilities, vision or hearing loss, visible tumors on their skin, or spinal curvatures; but, they will live mostly unaffected.


In most cases the tumors are benign, but may develop into malignant: so in most cases cancer treatment is unnecessary.

Neurofibromatosis in the Future

Scientists are still working on developing more effective treatments such as radiation and chemotherapy to remove the tumors. They are also trying to find factors that may control and regulate the growth of the tumors.


There are currently new treatments for the removal of tumors under investigation now.