What can be mistaken for neurofibromatosis?

Legius syndrome also is called a neurofibromatosis 1-like syndrome because its symptoms are similar to NF1. Individuals with Legius syndrome have skin problems including brown birthmarks, called cafe-au-lait spots, and freckling, as well as mild learning problems and a larger head.

How do you know if you have NF1?

The most common symptom of NF1 is the appearance of painless, coffee-coloured patches on the skin, called café au lait spots. However, not everyone with café au lait spots has NF1. The spots can be present at birth or develop by the time a child is 3 years old.

Can you have NF1 and not know it?

Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called café-au-lait (“coffee with milk”) spots because of their color.

Is Neurofibromatosis type 1 genetically inherited?

Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

Does everyone with NF1 get tumors?

Most people with NF1 will develop regular neurofibromas, but only a third of all people with NF1 will have a plexiform neurofibroma. You may want to ask your doctor if any of your tumors are a plexiform, so you know the difference.

Can NF1 skip a generation?

Only one parent need be affected to cause a child to have NF1 (i.e. autosomal dominant disease). NF1 does not skip generations. Sporadic or random mutations in the gene responsible for NF1 account for the remaining 50% of cases, and occur when a child has NF1 but neither parent does.

Can you have a baby if you have NF1?

A: Yes, because anyone can have a child with NF1. If you have a mutation in the NF1 gene, there’s a 50 percent chance that another child will have the mutation.

How do you inherit NF1?

Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition.

Does neurofibromatosis run in families?

The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people who have NF1 and NF2 inherited the disease from an affected parent. People who have NF1 and NF2 and whose relatives aren’t affected are likely to have a new gene mutation.

Are most NF1 cases mild?

Although two-thirds of NF-1 cases are mild, many parents come in fearing the worst. “Sometimes we see an affected parent and multiple children,” says Jordan, who usually treats pediatric patients and transfers them to Blakeley when they reach adulthood.

What are the symptoms of neurofibromatosis type 1 (NF1)?

This list also does not include every symptom or feature that has been described in this condition. In many cases, the first symptom of neurofibromatosis type 1 (NF1) is multiple small dark colored birth marks known as café-au-lait spots.

What does the NF1 gene do?

The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves.

What happens to people with NF1 as they grow older?

As they grow older, people with NF1 develop neurofibromas, benign tumors that can affect nearly any nerve in the body. These tumors usually grow on or just underneath the skin, but neurofibromas can also grow in other places in the body and may even affect multiple nerves.

Is NF1 an autosomal dominant or recessive disorder?

Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition.