Who is most affected by neurofibromatosis?

Is neurofibromatosis more common in a certain group of people?

NF1 is a rare disorder that affects males and females in equal numbers. NF1 affects all races and ethnic groups equally and is estimated to occur in 1 in 2,500 to 3,000 births.

Where is neurofibromatosis type 1 most common?

Most of the brain tumors that occur in neurofibromatosis type 1 are low-grade astrocytomas. They can occur anywhere in the brain, but most often occur along the optic pathway, and therefore can affect vision. Most of these tumors occur by 6 years of age.

Which neurofibromatosis is more common?

Neurofibromatosis 1 (NF1) is the most common of the three conditions. Although many people with NF1 inherit the gene that causes the condition, between 30 and 50 percent of cases arise from a spontaneous genetic mutation in the NF1 gene.

How common is neurofibromatosis in the world?

The Neurofibromatoses are genetically-determined disorders which affect more than 2 million people worldwide; this makes NF more prevalent than cystic fibrosis, Duchenne muscular dystrophy, and Huntington's Disease combined.

A Severe Case of Neurofibromatosis | Dr. Mercy

Is neurofibromatosis more common in ethnicity?

Neurofibromatosis, pronounced neuro-fibroma-tosis, is a genetic disorder of the nervous system that causes tumors to form on the nerves anywhere in or on the body at any time. NF affects all races, all ethnic groups and both sexes equally. NF affects more people than Cystic Fibrosis and Muscular Dystrophy combined!

What portion of the human population is affected by neurofibromatosis?

It is estimated that as many as 1 in 3,000 people have an NF1 mutation. About 50% of people affected by NF1 do not have any family history of the condition.

Is NF1 life threatening?

In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including: Skin, bone and eye abnormalities.

Does everyone with NF1 get neurofibromas?

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.

Does everyone with NF1 get tumors?

The eyes. Around 15% of children with NF1 develop a tumour on their optic pathway. The optic pathway is located at the back of each eye and sends information from the eyes to the brain.

When are most kids diagnosed with NF1?

Because children with NF1 get more signs and symptoms as they grow, the diagnosis may not be made right away. Almost all kids with the condition are diagnosed by the time they're 8 years old.

Can you have café-au-lait spots and not have NF1?

Can you have café-au-lait spots without having neurofibromatosis? Yes. It is very common for people to have a few café-au-lait spots on their bodies without having an underlying condition like neurofibromatosis type 1 (NF1).

How long can you live with NF?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.

Is neurofibromatosis recessive or dominant?

Inheritance. 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 .

How is NF inherited?

NF is considered an autosomal dominant disorder because the gene is located on one of the 22 chromosome pairs, called autosomes. The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. Children have a 50 percent chance of inheriting the genes that cause NF if the parent has NF.

Can you be a carrier of NF1 and not have it?

The other half of people with NF1 inherited it from one of their parents. This means that a parent with a mutation in the NF1 gene passed the mutated gene to the child. In some cases, the signs or symptoms of NF1 are so mild that a parent may not find out they have NF1 until their child is diagnosed.

Does NF1 get worse with age?

Typically, adults with NF1 will develop more neurofibromas over time. They may grow for a period of time and then stop growing. In addition, they may change in shape or color as they grow. Sometimes, they can also be associated with itching or slight discomfort when bumped.

Can NF1 cause leg pain?

Troublesome symptoms of NF1: When to call the doctor

numbness, tingling or weakness in an arm or leg. changes in neurofibromas, such as persistent and continuous pain, rapid increases in size or hardening.

Are café-au-lait spots common?

Approximately 10% of the general population has one or two café-au-lait spots. However, having more than 5 café-au-lait spots (referred to as multiple CALS) is rare.

Can NF1 tumors be removed?

If cancerous tumors develop with neurofibromatosis—for example, malignant plexiform neurofibromas, which can develop in the arms, legs, or trunk—they can also be surgically removed. For cancerous tumors, surgery may be combined with other treatments for cancer.

Are neurofibromas painful?

A genetic disorder such as neurofibromatosis (NF) can cause multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some neurofibromas itch or are painful, and some become tumors. Treatment consists of observation and, if necessary, medications or surgical removal.

How many people get neurofibromatosis every year?

It affects about 1 in 2,500 to 3,000 births each year in the United States. Signs of NF1 may be present at birth and almost always by the time a child is 10. Most people with NF1 have only mild signs and symptoms that need little or no treatment. But some can be more severe.

How is the family of a person with neurofibromatosis affected?

In addition to the stress that a diagnosis of NF brings to families, associated conditions, such as attention deficits, behavioral problems, and difficulties with social interactions, can add more stress and further impact quality of life for the family.

Does NF1 affect puberty?

Delayed or Early Puberty: Most people with NF1 will start puberty at the expected age range, but some may have precocious (early) or delayed puberty. Small Stature: Affects about 30% of people with NF1 and may be treated with growth hormone.

Can NF1 be cured?

There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.