Can you have neurofibromatosis and not know?

What Are the Signs & Symptoms of Neurofibromatosis Type 1? 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.

Can neurofibromatosis be asymptomatic?

Although most plexiform neurofibromas are asymptomatic, they may cause pain, grow to cause disfigurement, produce overgrowth or erosion of adjacent tissue, or impinge on the function of nerves and other structures.

Can neurofibromatosis show up later in life?

They can be present at birth or may not become noticeable for many years. Although some cutaneous neurofibromas arise in childhood, most start appearing during or after the teenage years.

Can you have a mild case of neurofibromatosis?

The symptoms of neurofibromatosis type 1 (NF1) are often mild and cause no serious health problems. But some people will have severe symptoms. The symptoms of NF1 can affect many different areas of the body, but it's unlikely someone will develop all of them.

Can you have neurofibromatosis without tumors?

Symptoms of neurofibromatosis type 1

In most cases, the skin is affected, causing symptoms such as: birthmarks known as café au lait spots, which are light or dark brown patches that can be anywhere on the body. soft, non-cancerous tumours on or under the skin (neurofibromas)

Neurofibromatosis, Causes, Signs and Symptoms, Diagnosis and Treatment.

Can you have NF1 without café-au-lait spots?

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). People diagnosed with NF1 usually have more than six café-au-lait spots on their bodies along with additional symptoms related to their diagnosis.

How do I know if I have NF1?

Signs and symptoms include: Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots suggests NF1 .

Do café-au-lait spots always mean neurofibromatosis?

It is not unusual for a healthy child to have a few café-au-lait spots, and it is not recommended to provide an evaluation for NF1 if the spots are fewer than six in number. These spots also should be clear and distinct – finding very faint or small skin spots does not count towards the six spots needed for diagnosis.

What does a neurofibroma feel like?

Plexiforms are neurofibromas that spread around large nerves as they grow, causing the nerve to become thick and misshapen. They feel like knots or cords under the skin. They can be large, painful, and disfiguring.

What age do café-au-lait spots appear?

This is a disorder that can affect the skin, nerves, and eyes. People with this disorder often have several café au lait spots on different parts of their body. Some spots are present at birth, whereas others start to develop before the age of five.

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.

At what age do neurofibromas develop?

Neurofibromas usually start to appear from the age of ten onwards and may increase in number during a lifetime. Some children develop a few skin neurofibromas at an earlier age.

Can adults be diagnosed with neurofibromatosis?

The disorder is usually diagnosed in early childhood since some of the symptoms are present in infants or even newborns. In some cases however, the symptoms appear in adulthood only when they might cause diagnostic problems.

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.

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.

How can you test and confirm NF1?

A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don't have an identifiable mutation. Testing can now also be performed for SPRED1.

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 neurofibromas hard or soft?

A neurofibroma is a type of nerve tumor that forms soft bumps on or under the skin. A neurofibroma can develop within a major or minor nerve anywhere in the body. This common type of benign nerve tumor tends to form more centrally within the nerve.

What do NF1 tumors look like?

Neurofibromatosis type 1 (NF1) is a hereditary condition commonly associated with multiple café-au-lait spots on the skin. Café-au-lait spots are light brown in color, like the color of “coffee with milk.” About 10% to 25% of the general population has café-au-lait spots; NF1 is suspected when a person has 6 or more.

When do freckles appear in NF1?

Symptoms and appearance

Freckles under the arms or in skin folds usually develop during the first 3-5 years of the child's life. The course of NF varies considerably between patients depending on which organs are involved. Individuals with NF1 have a 50% chance of passing this condition on to their offspring.

How fast do neurofibromas grow?

The median rate of growth of the individual tumours expressed as a percentage of the volume measured on the first exam was 2.8% per year, with a range of −35.9% to 3667% per year.

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.

Can neurofibromatosis be dormant?

Recognizing neurofibromatosis symptoms will help you cut to the quick in terms of treating it. Human genetic disorders can remain dormant in the body for years, so you should get tested as soon as possible if you think you are a carrier.

Is there a blood test for neurofibromatosis?

Genetic testing can find mutations (changes) in the NF1 gene. It is done by taking a blood sample. The NF1 gene can be analyzed to see if the person has a normal or a changed copy of the gene. Genetic testing can be very useful, but results are not always clear.

Does NF1 always 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.