How do I know if my baby has neurofibromatosis?

Light brown spots on the skin called café-au-lait spots

café-au-lait spots

Café au lait spots, or café au lait macules, are flat, hyperpigmented birthmarks. The name café au lait is French for "coffee with milk" and refers to their light-brown color. Café au lait lesions with rough borders ("coast of Maine") may be seen in McCune-Albright syndrome.

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Café au lait spot - Wikipedia

. 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.

At what age do neurofibromas appear?

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. Freckling usually appears by 3 to 5 years of age. Freckles are similar in appearance to café-au-lait spots but are smaller in size.

What do neurofibromas look like at first?

Typically, people with NF1 start to see neurofibromas appear during their teens. The neurofibromas grow slowly and may look like a pimple at first. You won't wake up one morning, or next year, and be covered with neurofibromas. They develop gradually over a period of many years.

How do they test for neurofibromatosis?

Imaging tests.

X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.

Is NF1 on newborn screen?

NF1 may be diagnosed before or at birth using genetic (DNA) tests. A doctor usually suggests genetic testing for NF1 if: a parent or sibling of an unborn baby is known to have NF1. a newborn shows signs of NF1.

One family's journey with NF1

Does my child have 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.

What age do café-au-lait spots appear?

The spots can be present at birth or develop by the time a child is 3 years old. During childhood, most children with NF1 will have at least 6 café au lait spots around 5mm across. These grow to about 15mm during adulthood. The number of spots someone has is not related to the severity of the condition.

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.

Do cafe 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.

Is there a prenatal test for neurofibromatosis?

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.

Is one café-au-lait spots normal?

The spots are usually present at birth but may develop later in life. 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 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.

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.

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.

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.

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.

Should I worry about café-au-lait spots?

Café-au-lait (CAL) spots are benign (noncancerous), harmless and will not affect your child's body. If your child has more than six CAL spots, visit your healthcare provider because multiple CAL spots can be a sign of an underlying genetic condition.

How many café-au-lait spots are concerning?

Cafe au lait spots usually appear singly. More spots can occur in children with a genetic condition called neurofibromatosis or other conditions. If your child has six or more cafe au lait spots, ask your doctor whether your child needs a medical examination.

Are café-au-lait spots present at birth?

Café-au-lait spots or macules (CALS or CALM) are flat, pigmented spots on the skin. They are commonly referred to as “birthmarks”, but are often not present at birth. The name café-au-lait spot is derived from the French term for coffee (café) with milk (lait) because they usually have a light brown color.

How do you rule out NF1?

Your child's doctor will look for signs of NF1 in your child's skin, eyes, bones or brain. The second method is genetic testing, also called a molecular or DNA diagnosis. Your child will need to give a blood sample. A lab will check the sample for a change (mutation) in the NF1 gene.

Is there a cure coming soon for neurofibromatosis?

Neurofibromatosis can be treated and managed, but there is no cure. MSK recently launched a neurofibromatosis center to improve the treatment of this disease. Neurofibromatosis is a genetic disorder that often leads to tumors throughout the nervous system, including the brain, spinal cord, and nerves.

What part of the body does neurofibromatosis affect?

Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin.

What do café-au-lait spots indicate?

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.

What causes café-au-lait spots in babies?

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 detected before birth?

For a parent with NF1 who is the only affected family member, gene sequencing can be used to identify a specific gene mutation. Identification of the mutation in the affected parent would permit prenatal diagnosis via amniocentesis or chorionic villus sample (CVS).