Neurofibromatosis Type 1 – What it is, Causes and Treatments we should all know. Also, Neurofibromatosis Type 1 is the general name for a number of genetic conditions that cause tumors to grow along your nerves. Tumors are bumps formed by a growth of cells. In neurofibromatosis, the tumors are usually not cancerous (benign).
Neurofibromatosis Type 1 is the most common type, affecting about one in 3,000 births. Neurofibromatosis type 2 (NF2), which is much less common, has different symptoms and is caused by changes in different genes, so it is covered separately. So, check out now Neurofibromatosis Type 1 – What is it, Causes and Treatments:
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Causes of Neurofibromatosis Type 1: Neurofibromatosis Type 1 is caused by a genetic mutation in a gene called Neurofibromatosis Type 1 . Genes are the instructions used to produce all human characteristics. A genetic mutationis a permanent change in the DNA sequence that makes up a gene.
Normally, the Neurofibromatosis Type 1 gene is responsible for producing a protein that helps regulate the growth of nerve tissue. The protein “turns off” tissue growth once it has reached a certain size.
In someone with Neurofibromatosis Type 1 , this gene is defective. This causes cells to produce an incomplete protein that is much less effective at shutting down nerve tissue growth, leading to uncontrolled growth ( tumors ) in the developing nervous system. The defective gene that causes Neurofibromatosis Type 1 is found on chromosome number 17.
Symptoms of Neurofibromatosis Type 1:
Colored spots: The most common symptom of Neurofibromatosis Type 1 is the appearance of painless, coffee-colored spots on the skin, known as café au lait spots. They affect 95% of people with Neurofibromatosis Type 1 . The spots can be present at birth or develop when a child is three years old.
During childhood, most children with Neurofibromatosis Type 1 will have at least six café au lait spots around 5m in diameter. These grow to around 15m during adulthood. The number of café au lait spots someone has is not related to the severity of the condition.
For example, a person with 10 points has the same chance of developing new problems as someone with 100 points. Having a couple of café au lait spots doesn’t necessarily mean you have Neurofibromatosis Type 1 . About one in 10 people without the condition have one or two of these spots .
Treatment of Neurofibromatosis Type 1: Someone with Neurofibromatosis Type 1 will need regular monitoring and any problems treated by a team of healthcare professionals . If you develop complex problems, you will usually be referred to one of two specialist NHS centers so that a treatment plan can be worked out. These are:
Monitoring: Most children with Neurofibromatosis Type 1 are recommended to have a comprehensive examination every year. This may include:
- A detailed examination of your skin to check for new neurofibromas (bumps on or under the skin) or changes in existing ones:
- A vision test and an examination of both eyes :
- A bone evaluation to check for problems such as scoliosis (abnormal curvature of the spine) or poorly healing bone fractures:
- A measure of blood pressure:
- Measuring your child’s physical development:
- Assessing your child’s progress in school – skills in activities such as reading, writing, problem solving and comprehension:
As a child gets older, they should be seen once a year. Over time, they will learn to monitor their own health so they know when to seek help. However, they may need further assessment if they develop complex health needs.