Neurofibromatosis 1 (NF1)

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Neurofibromatosis 1, also known as NF1, or Von Recklinghausen Disease.

[edit] Definition

Neurofibromatosis 1 is a subtype of neurofibromatosis, which is a genetic condition that causes damage to nerve cells. NF1 is the less severe and more common type of the disease, and causes tumors to grow on nerve tissue, and may also cause skin and bone disfiguration.

[edit] Description, Signs and Symptoms

NF1 is characterized by the growth of tumors on nerve tissue as well as discoloration of the skin. Marks known as café au lait spots appear on the skin, which are coffee-colored, misshapen marks. Bone disorders such as scoliosis may also occur. The disease is usually diagnosed and stabilized during childhood, and is managed by treating symptoms.

[edit] Inheritance

About half of NF1 cases are inherited by an autosomal dominant pattern, meaning that if one parent has the condition, there is a 50% chance their child will also have it. However, a significant number of NF1 cases arise spontaneously due to random mutation in the NF1 gene, which is located on chromosome 17. The NF1 gene is responsible for making a protein from the guanosine triphosphate-activating protein (GAP) family, which plays a role in tumor suppression. Mutation in the gene results in a nonfunctional or absent protein, which is why tumor growth is so characteristic of this disease.

[edit] Demographics

NF1 is fairly common compared to other genetic disorders, occurring in about 1 in every 3000 births. It is estimated that the mutation rate for this gene is about 1 in 10,000.

[edit] Diagnosis

Physicians may diagnose NF1 based on physical examination and genetic testing.

[edit] Treatment and Management

NF1 is treated by managing the symptoms. Generally NF1 is a mild form of neurofibromatosis. Bone malformations and tumors may be corrected or removed by surgery, especially those that affect quality of life. Tumors are usually benign, but can grow in places that put pressure on internal organs and structures, causing pain or damage, and these should be removed.

[edit] Prognosis

Most people with NF1 can live full and normal lives, when the condition is diagnosed early and treatment is begun appropriately. In rare cases complications may occur if tumors disrupt organ function.