What Is A ‘Café-Au-Lait Spot’ And Could It Mean I Have Cancer? Understanding Neurofibromatosis During Its Awareness Month

According to the Cleveland Clinic, characteristics of CAL spots include the following:

• Flat spots on the skin, typically on the torso, arms, legs and buttocks.
• Light brown to dark brown color.
• Round or oval shape, between 2 millimeters to more than 20 centimeters in diameter.
• Smooth or rigid border around the spot.
• Spots can grow in size and number with age.
• Spots are painless and don’t cause itchiness or other symptoms.

It’s also crucial to note that there are two types of CAL spots that are distinguished by their shape and pattern: the coast of California and the coast of Maine spots.

• The coast of California spot, the most common type of CAL spot, has clear, smooth borders on all sides, similar to the outline of the California coast. There can be a single spot or multiple CAL spots with clearly defined borders.
• The coast of Maine spot, a less common type of CAL spot, has a rough, jagged looking border similar to the coast of Maine.

For the sake of SurvivorNet’s purposes, we’d like to focus on the California CAL spots because having multiple of these spots indicate an underlying condition, like neurofibromatosis (NF1) or other genetic syndromes, that affect your skin and nervous system.

Understanding Neurofibromatosis

But what is neurofibromatosis, you may ask. Neurofibromatosis, or NF for short, is a genetic disorder that causes tumors to develop on nerve tissue. Not many people know about NF, but May is, in fact, neurofibromatosis awareness month.

Neurofibromatosis tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves, and there are three types of the disorder:

• Neurofibromatosis 1 (NF1). Usually diagnosed during childhood, signs of this type are often noticeable at birth or shortly afterward and almost always by age 10.
• Neurofibromatosis 2 (NF2). Much less common than NF1, NF2 has signs and symptoms that generally appear during the late teen and early adult years.
• Schwannomatosis. Usually affecting people after age 20, schwannomatosis symptoms generally show up between ages 25 and 30.

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For today, we’ll be focusing on NF1 due to its connection to café-au-lait spots. NF1, also called Von Recklinghausen disease, causes benign tumors to grow on nerve tissue inside a person's brain and in the peripheral nervous tissue.

Signs and symptoms of NF1 can include:

• Flat, brown spots on the skin (café-au-lait spots). These harmless spots are common in many people. Having more than six CAL spots suggests NF1. They are usually present at birth or appear during the first years of life. After childhood, new spots stop appearing.
• Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5. Freckles are smaller than café-au-lait spots and tend to occur in clusters in skin folds.
• Tiny bumps on the iris of the eye (Lisch nodules). These harmless nodules can’t easily be seen and don’t affect vision.
• Soft, pea-sized bumps on or under the skin (neurofibromas). These benign tumors usually develop in or under the skin, but can also grow inside the body. Sometimes, a growth will involve many nerves (plexiform neurofibroma). Plexiform neurofibromas, when located on the face, can cause disfigurement. Neurofibromas may increase in number with age.
• Bone deformities. Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg.
• Tumor on the optic nerve (optic glioma). These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults.
• Learning disabilities. Impaired thinking skills are common in children who have NF1 but are usually mild. Often there is a specific learning disability, such as a problem with reading or mathematics. Attention-deficit/hyperactivity disorder (ADHD) and speech delay also are common.
• Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
• Short stature. Children who have NF1 often are below average in height.

Even when these tumors are “benign,” they can still cause serious issues, but an estimated 3 to 5 percent of people who have NF1 develop cancerous tumors. It should also be noted that people with NF1 are at a higher risk for other types of cancer such as breast cancer, leukemia, colorectal cancer, brain cancer and some types of soft tissue cancer. Additionally, women who have NF1 should start screening for breast cancer at an earlier age than the general population.

Advocating for Yourself or Your Child

More than six CAL spots are present on an estimated 95 percent of people diagnosed with NF1. No matter what age, if you or your child has multiple coast of California CAL spots, you should promptly visit your healthcare provider since multiple CAL spots could indicate an underlying condition, like NF1.

Here at SurvivorNet, we always encourage people to advocate for themselves when it comes to cancer and, more generally, health care. When it comes to a child, the parent must become the advocate, especially when we’re talking about multiple café-au-lait spots which can potentially be a sign of cancer on newborns and young children.

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And even if you're called 'pushy' or people dismiss the concerns you have for you or your child, it's important to remember that you never know when speaking up about a seemingly unproblematic issue can lead to a very important diagnosis cancer or otherwise.

"Every appointment you leave as a patient, there should be a plan for what the doc is going to do for you, and if that doesn't work, what the next plan is," Dr. Zuri Murell, director of the Cedars-Sinai Colorectal Cancer Center, told SurvivorNet in a previous interview. "And I think that that's totally fair. And me as a health professional that's what I do for all of my patients."

Be Pushy, Be Your Own Advocate… Don't Settle

In a previous interview with SurvivorNet, April Knowles also talked about self advocacy and explained how she became a breast cancer advocate after her doctor dismissed the lump in her breast as a side effect of her menstrual period.

Unfortunately, that dismissal was a mistake. Knowles was diagnosed with metastatic breast cancer at age 39. She said the experience taught her the importance of listening to her body and speaking up when something doesn't feel right.

I Wanted My Doctor To Like Me, Then He Missed My Breast Cancer

"I wanted my doctor to like me," she said. "I think women, especially young women, are really used to being dismissed by their doctors."

Figuring out whether or not you have or your child has cancer based on possible symptoms is critical because early detection may help with treatment and outcomes.

Seeking multiple opinions is one way make sure you are or your child is getting the proper care and attention. You should also try to remember that not all doctors are in agreement. Diagnoses as well as recommendations for further testing or treatment options can vary, and sometimes it's essential to talk with multiple medical professionals.

Learn more about SurvivorNet's rigorous medical review process.