Neurofibromatosis Type 1

Neurofibromatosis Type 1

Description, Causes and Risk Factors:

Neurofibromatosis (NF) is a genetic disorder of the nervous system that causes tumors to form on the nerves anywhere in the body at any time. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF is one of the most common genetic disorders in the US (one in every 3,000 to 4,000 births).

Types may include NF-1 (NF type 1) and NF-2 (NF type 2).

NF1 is a hereditary disorder due to an alteration, called a mutation, in the NF1 gene. All people have two copies of every gene, one copy inherited from each parent. The NF1 gene mutation is dominant, meaning only one of the two copies of the gene needs to have the mutation to produce the disorder. A parent with NF1 has a 50% chance of passing the abnormal gene copy to a child. A child who inherits the altered gene will also have the disorder.

NF1 is not contagious — no amount of contact between an affected and unaffected child can transmit the condition. In fact, NF1 is known to be caused by a change in the structure of a gene. Because of this, NF1 can be transmitted from generation to generation. An affected individual has a 50% chance of passing the condition on to any child.



    The signs of NF1 usually begin to appear in childhood or adolescence.

  • Cafe-au-lait spots on the skin.

  • Presence of pea-sized bumps (neurofibromas) on the skin.

  • Larger areas on the skin that look enlarged (plexiform neurofibromas).

  • Freckling under the arms or in the groin area.

  • Pigmented bumps on the eye's iris (Lisch nodules).

  • Skeletal abnormalities such as bowing of the legs, curvature of the spine (scoliosis)or thinning of the shinbone.

  • Tumor on the optic nerve (optic glioma) that rarely interferes with vision.

The following problems are more commonin NF1 and need to be watched for andtreated if necessary by the doctor or nursepractitioner:

    Learning disability - about a 50 %chance.

  • Attention deficit disorder (ADD/ADHD).

  • Larger head size than average.

  • Shorter than average.

  • Early puberty.

  • High blood pressure.

  • Scoliosis (curved spine).

  • Headaches.


The presence of multiple caf


Submit a Comment

Your email address will not be published. Required fields are marked *

Cart Preview

Cheap Drugs May Help Prevent Dementia after a Stroke

Cheap Drugs May Help Prevent Dementia after a Stroke

A new research from the University of Edinburgh, UK, suggests that cheap cilostazol tablets may reduce damage to arteries, which lead to blood clots, resulting in strokes and cognitive decline. The researchers plan to assess the medications’ ability to cut the risk of...

Flavonoids in Fruits and Vegetables May Preserve Lung Function

Flavonoids in Fruits and Vegetables May Preserve Lung Function

A new study from the US discovers that flavonoids, natural compounds found in fruits and vegetables, may help preserve the lung function, which tends to decline with age. For the study, a team of researchers looked at data from 463 adults from Norway and England whose...

Quiz about this article

Please answer on few questions to make our service more useful

Featured Products

Spring is Here: Top 6 Outdoor Sports

Good weather is the best reason to do outdoor sports, which will help not only lose weight, but also will strengthen health. Bicycle The sun dries out the local paths, so you can safely sit on your favorite bike and confidently twist the pedals, where the eyes look....

read more

First Aid in Case of Injuries for Sport and Exercise

First aid for injuries consists of simple rules that need to be clearly implemented. If this is a closed injury, you need to immobilize the injured limb, otherwise the person may lose consciousness from a painful shock. If you need to get to the emergency room...

read more