Do café-au-lait spots always mean neurofibromatosis?

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).

Does café-au-lait spots mean neurofibromatosis?

Although these colored spots on the skin can be harmless, having six or more café au lait spots with freckles under the arm or around the groin could indicate an underlying genetic problem called neurofibromatosis type 1. This is a disorder that can affect the skin, nerves, and eyes.

Can café-au-lait spots be normal?

Café au lait spots are harmless and normal, with some people having anywhere from one to three spots. But sometimes, these spots can indicate an underlying genetic problem.

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.

What is the minimum number of café-au-lait spots that should be of concern?

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.

Ask Kate! Do my son's café au lait spots mean he has NF1?

Can you have 6 café-au-lait spots without neurofibromatosis?

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 do I know if my baby has neurofibromatosis?

Light brown spots on the skin called café-au-lait spots. These are the most common signs of NF, and they often appear at birth or in the first years of life. They're harmless, but if your child has more than six, she probably has NF1. Freckles in the armpits or groin area also are signs of NF1.

Can you have NF1 and not know it?

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.

At what age is neurofibromatosis usually diagnosed?

Neurofibromatosis 1. Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

How do I verify NF1?

Do café-au-lait spots get bigger?

Café-au-lait macules are harmless light to dark brown, oval, well-defined spots. They are normally present from birth and can increase in number and size over time.

What do café-au-lait spots indicate?

Café au lait spots are caused by an increase in melanin content, often with the presence of giant melanosomes. A significant increase in melanocyte density is noted in the café au lait macules of patients with NF1 compared with patients who have isolated café au lait macules without NF1 involvement.

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.

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

Indeed, anyone can have 1 or 2 cafe-au-lait spots without having neurofibromatosis. The only significance to the cafe-au-lait spot is that it suggests the possibility that a person might have NF1. People with NF1 usually have many cafe-au-lait spots, sometimes hundreds, and almost always more than 6.

Who is most likely to get neurofibromatosis?

The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.

Can a dermatologist diagnose NF1?

NF1 is also the most common cancer predisposition syndrome. The diagnosis is often made by dermatologists who also operate on cutaneous neurofibroma tumours.

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 you live a normal life with neurofibromatosis?

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.

Do café-au-lait spots run in family?

Abstract. Multiple café-au-lait spots have been observed in successive generations of several families without any other manifestations of neurofibromatosis (NF) or any other systemic disorder. The café-au-lait spots in these families segregate as an autosomal dominant trait.

Can a blood test detect neurofibromatosis?

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.

How do you get rid of NF1 bumps?

There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy.

How accurate is genetic testing for NF1?

In cases where a clinical diagnosis of NF1 is inconclusive or needs to be confirmed, genetic testing is currently available that can diagnose NF1 with 95% sensitivity by sequencing a person's NF1 gene to identify mutations.

Are there prenatal tests for NF1?

Neurofibromatosis screening tests can be performed prenatally (while a fetus is in utero) to help determine whether an individual will be born with the condition. However, prenatal neurofibromatosis tests are typically only given when one or both parents have the condition.

Does NF1 affect teeth?

In particular, complex retentions of teeth have to be expected in NF1 (25). Two oral health studies on NF1 patients have already been performed in other countries. A study from Canada (27) revealed significantly higher rates of decayed teeth in patients with NF1 than in a reference group of healthy individuals.

Can neurofibromatosis be prevented?

Can neurofibromatosis be prevented or avoided? You cannot avoid NF. You can have genetic testing to see if you carry the gene.