How Do I Know if I, or My Child, Has Neurofibromatosis?
When someone is told that they have neurofibromatosis (NF), one of the first questions is: How can you be sure? How do I know I have NF?
Right now, there is no simple blood test for NF. However, because the genes causing NF-1 and NF-2 have been identified, a simple blood test for NF should be available in the future. Until that time, a doctor who is familiar with NF should make the diagnosis of NF. Knowledge of NF is the best tool you and your doctors have in treating the disorder. A good first step is making sure you understand how a diagnosis of NF-1 or NF-2 is made. To help decide whether someone has NF-1 or NF-2, the National Institute of Health offers the following guidelines:
How Do I Know if I, or My Child, Has NF-1?
Children may have only a few signs of NF-1 and develop other problems when they are older. A person with NF-1 should have at least two of the following features:
- Six or more brown oval or circular spots on the skin, called café-au-lait spots
- Two or more benign skin tumors, called neurofibromas, or one diffuse tumor of the soft tissue or nerves, called plexiform neurofibroma
- Freckles under the arm or in the groin region
- A tumor of the nerve to the eye--called an optic glioma
- Two or more spots on the iris--called Lisch nodules
- A problem of one of the bones, such as bowing of a leg with or without a fracture
- A parent, brother, sister, or child with NF-1
How Do I Know if I, or My Child, Has NF-2?
Signs of NF-2 are usually not present until people are teenagers or older. A person with NF-2 should have either:
Tumors on both sides of the head of the nerves for hearing and balance, called vestibular schwannomas
A mother, father, brother, or sister with NF-2 AND one of the following:
- A vestibular schwannoma
- Benign tumors in the brain or along the spinal cord
- A cataract at a young age
About Other Forms of NF
There are people who do not fit easily into NF-1 or NF-2, or people in whom signs of NF are located on only one side of the body. These are very uncommon forms of NF and we know less about them.
What Is a Gene?
A gene is a tiny portion of DNA that determines personal characteristics, such as eye color. Each chromosome has thousands of genes linked together like beads on a string.
What Are Chromosomes?
Chromosomes are made of chains of genes that contain all of the basic information for a person.