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.

Symptoms:

Signs:

    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.

Diagnosis:

The presence of multiple caf

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