What is Cafe Au Lait Macules?
“Cafe-au-lait macules” or CALMs are flat discolored spots on the skin that are commonly found in people. These spots are often present at birth or appear early in life, and they might increase in number and size as a person grows older. Their color can range from light to dark brown and can be found on any part of the body, though they are most commonly detected on the torso and limbs. The term “cafe-au-lait” is French and translates to “coffee with milk.”
There are primarily two main types of CALMs. The most common type has regular and clearly outlined edges which is often called a “coast of California” pattern. These spots can vary in size significantly, from a few millimeters to larger than 20 centimeters, and they may appear alone or in clusters. The second type, less common than the first, has irregular edges and is often larger and appearing alone. This “coast of Maine” pattern is usually tied to a skin pigmentation disorder. Meanwhile, the “coast of California” pattern is often seen in a condition called neurofibromatosis 1 (NF1) and similar conditions.
For 95% of people with NF1, CALMs are present. While it is normal to have a single CALM, having many could indicate an underlying genetic disorder, especially if other symptoms are also present. Therefore, further examination would be required in those cases. If a person with multiple CALMs has family members who also have CALMs, this could provide important information for diagnosis.
What Causes Cafe Au Lait Macules?
Cafe-au-lait macules (or CALMs) are localized areas of increased skin pigment. The exact reason why they occur is not entirely understood, except when they are linked with certain genetic syndromes. CALMs are often associated with a variety of genetic conditions such as neurofibromatosis (types 1 and 2), McCune-Albright Syndrome, and several others.
These marks can also be an indication of conditions related to RAS mutations, a group of disorders known as RASopathies. Some examples of RASopathies that can cause CALMs are Legius syndrome, Watson syndrome, and Noonan syndrome with multiple lentigines (previously referred to as LEOPARD syndrome).
Let’s briefly explain some conditions associated with CALMs and what causes them:
* Neurofibromatosis type 1 (NF1): This condition is caused by changes in the NF1 gene, a gene that helps suppress tumor growth. This gene is located on chromosome 17.
* Neurofibromatosis type 2 (NF2): This condition happens due to changes in the NF2 gene, another gene that helps stop tumors from developing. This gene is located on chromosome 22.
* McCune-Albright Syndrome: This syndrome is due to a mutation in the GNAS gene.
* Legius syndrome: This syndrome is caused by a mutation in the SPRED-1 gene.
Risk Factors and Frequency for Cafe Au Lait Macules
Most Café-au-lait macules (CALMs) are either present at birth or appear early in childhood. However, these marks may not be easy to spot at birth, although the use of a tool known as Wood’s lamp can improve their visibility. If a child has a condition called NF1, both the size and the number of these marks might increase as they get older.
The rate at which CALMs are found in newborns and school-aged children varies with race. While they are more common in African Americans, they can appear in individuals of any race. While most children have one or two of these marks, a few may have three or more.
- CALMs are either present at birth or appear early in childhood.
- These marks may not be easily visible at birth. A Wood’s lamp can help to see them.
- The size and number of CALMs can increase with age in children with NF1.
- CALMs are more common in African Americans but can appear in any race.
- Most children have one or two CALMs, but some may have three or more.
- The occurrence of CALMs in newborns ranges from 0.3% in whites to 18% in African Americans.
- The occurrence of CALMs in school-aged children ranges from 13% in whites to 27% in African Americans.
Signs and Symptoms of Cafe Au Lait Macules
Cafe-au-lait macules (CALMs) are a type of pigmented skin marking that often appear soon after birth or during early childhood. These spots may either be alone or can occur in multiples, and they may grow larger over time. An individual having a single CALM is a fairly common occurrence. However, if a person has multiple CALMs, it’s important for a closer evaluation to be done by a healthcare professional as this could indicate the presence of a genetic syndrome. One common genetic syndrome associated with multiple CALMs is Neurofibromatosis type 1 (NF1).
NF1, also known as von Recklinghausen’s disease, is the genetic disorder most commonly associated with multiple CALMs. It affects both men and women of all ethnicities and happens because of a mutation in the NF1 gene. Symptoms may include skin spots, vision troubles, muscle weakness or other neurological symptoms, headaches, and potentially pain or disfigurement of the bones. For a diagnosis of NF1 to be made, at least two of the following symptoms should be present:
- Six or more CALMs, with a size greater than 5mm in children or over 15mm in adults
- At least one plexiform neurofibroma, which is a type of benign tumor, or any two other types of neurofibromas
- Freckles in the armpit or groin area, a sign indicative of NF1
- Optic glioma, a type of brain tumor affecting the eyes
- Two or more Lisch nodules, which are benign growths on the iris of the eye
- A distinct bone abnormality, like abnormal bone thinning or a condition causing false joints in the bone
- A first-degree relative, such as a parent, sibling or child, with a diagnosis of NF1
There are other genetic syndromes associated with multiple CALMs, including Neurofibromatosis type 2 (NF2), McCune Albright Syndrome, Legius syndrome, Watson Syndrome, and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). Each of these conditions have distinct genetic mutations and present with their own set of symptoms, but they all can have multiple cafe-au-lait macules as a common feature.
Testing for Cafe Au Lait Macules
If a child has multiple café-au-lait macules (CALMs) – birthmarks that are often the color of coffee with milk – doctors will want to determine if these spots are a sign of a deeper health issue. Having more than six CALMs might indicate the presence of a genetic syndrome, most commonly Neurofibromatosis 1 (NF1), which involves changes in skin coloring and growth of tumors along nerves in the skin, brain, and other parts of the body.
Doctors would conduct a detailed skin examination, looking for patterns in the spread of the CALMs, skin freckling, and the appearance of cutaneous neurofibromas, which are small, benign bumps that can appear on or under the skin. Special attention is paid when CALMs are concentrated only in a single body region, which may suggest segmental NF1, a type of the same condition.
An ophthalmological examination, a test that checks the health of your eyes, would also be done, searching for Lisch nodules (small, harmless areas of raised pigment on the surface of the iris) and signs of optic glioma (slow-growing brain tumors).
Other related symptoms to watch out for include learning disabilities and skin tumors. A detailed review of the child’s developmental history and school performance also forms part of the assessment process.
If genetic syndromes are suspected, genetic testing can confirm the diagnosis. Family members might also need further assessment if a genetic syndrome is confirmed, as they might have similar health concerns.
If Neurofibromatosis 2 (NF2) – a condition that causes noncancerous tumors to grow in the nervous system – is suspected, an MRI of the brain can reveal the location of any possible tumors.
A skin biopsy, a procedure where a sample of skin is removed for laboratory testing, is usually not required for diagnosis. However, if performed, it would show an increased amount of melanin, the pigment that gives skin its color, along with large pigment-producing cells in the basal layer of the skin in CALMs associated with NF1.
Treatment Options for Cafe Au Lait Macules
“Cafe-au-lait macules” or CALMs, are light brown skin patches. They don’t have a risk of turning into cancer. Therefore, you usually don’t have to treat them unless you want to improve how they look. Up until recently, there wasn’t a medical treatment for these skin patches. However, now, laser therapy is the primary treatment method. Different lasers, like Q-switched neodymium:yttrium-aluminum-garnet laser (QSNd:YAG), Q-switched alexandrite laser, Q-switched ruby laser, Copper vapor laser, and pigmented lesion dye laser, can be used for this. You may need several laser treatment sessions to clear the skin patches. This procedure may have some risks like changes in skin color, scarring, and the patches might not completely clear up.
Patients with genetic syndromes that lead to these skin patches need a team of various specialists for treatment. This team can have a pediatric neurologist, a skin doctor or dermatologist, an eye doctor or ophthalmologist, a geneticist (a doctor who specializes in genetics), a specialized nurse, and an orthopedic surgeon (a doctor who treats diseases of the bones, joints, ligaments, tendons, and muscles). Family members and patients might also need genetic counseling, which can help them understand the potential genetic risks and impacts on their health. This is an important part of the treatment plan for patients with CALMs who might also have genetic syndromes like NF1 and NF2.
What else can Cafe Au Lait Macules be?
First, it’s important to distinguish Cafe-au-Lait macules (CALMs) from other conditions that cause widespread skin darkening, such as Addison’s disease, hemochromatosis, and phototoxic allergic reactions. These conditions don’t have the clear, round edges typically seen in CALMs.
The conditions that are similar to CALMs and should be considered when making a diagnosis include:
- Congenital melanocytic nevus
- Becker nevus
- Nevus spilus
- Lentigo
- Urticaria pigmentosa
- Postinflammatory hyperpigmentation
- Plexiform neurofibroma
- Segmental pigmentation disorder
- Mastocytoma
- Phytophotodermatitis
What to expect with Cafe Au Lait Macules
Café-au-lait macules, which are light brown patches on the skin, can be challenging to treat. Using a laser treatment method can sometimes partially clear them, but they often come back. These skin patches themselves are harmless and won’t cause health problems or lead to death. However, in some cases, they’re related to certain genetic disorders that can result in the growth of cancerous tumors.
Possible Complications When Diagnosed with Cafe Au Lait Macules
Having one or two CALMs (Cafe-au-lait macules) is typically harmless and does not indicate any genetic syndromes. However, if multiple CALMs are present and have a patterned distribution, it could suggest the presence of certain genetic disorders. One such condition is NF1 (Neurofibromatosis type 1), which can lead to the growth of cancerous tumors including nerve sheath tumors, optic gliomas, and types of blood cancer known as leukemias.
Another genetic condition, Tuberous sclerosis, may carry a risk for a type of cardiac tumor called rhabdomyoma.
Common findings in genetic syndromes:
- Multiple and patterned CALMs
- Development of cancerous tumors such as nerve sheath tumors, optic gliomas, and leukemias (in NF1)
- Cardiac tumors like rhabdomyoma (in Tuberous sclerosis)
Preventing Cafe Au Lait Macules
If your child has a skin lesion or spot that hasn’t been checked by the doctor, has more than six cafe-au-lait spots (CALMs, which are birthmarks that are often a light brown color, like coffee with milk), has CALMs and bumps on their skin, has CALMs and has trouble with learning, language or development, or if you have relatives with many CALMs or with a condition known as Neurofibromatosis Type 1 (NF1), you should take your child to the doctor right away for further evaluation.
If your child has been diagnosed with Neurofibromatosis Type 2 (NF2), a condition that can cause tumors to grow in the nervous system, it is recommended that they have a full health check-up every year. This would include a skin check, an eye exam, and a hearing test. Starting at the age of 10, they should also have an annual MRI scan of the brain. This is to check for any early signs of tumors related to NF2.
Many children with Neurofibromatosis Type 1 (NF1) may have problems with learning, writing and focusing their attention. It’s important for parents to be made aware of these issues and taught ways to manage them. If these problems are severe, a rehabilitation program may be recommended to help the child.
