Definition

Café au lait is a skin condition characterized by the presence of flat spots varying in color from light brown to dark brown. These spots, categorized as pigmented birthmarks, are easily recognizable due to their distinct yet irregular borders. They can exhibit a spectrum of hues, often light brown but capable of darkening with prolonged sun exposure. The size of café au lait spots may vary, ranging from as small as 0.5 centimeters. While these spots are typically present at birth, they can also emerge during adulthood. Café au lait spots are permanent and can appear on any part of the body, although they are most commonly found on the torso, hands, and feet.

Approximately 10% of the whole population has café au lait spots. The spots are often benign and regarded as normal as long as there are only between one and three lesions. However, in certain cases, if the number of spots that form is substantial and has a wide diameter, it can suggest the presence of an underlying genetic issue.

The word café au lait originates from the French language and translates to "coffee and milk." This is a description of the skin pigmentation of an individual with a fair complexion, like the color of coffee. In individuals with dark skin, the patch will exhibit a darker hue (café noir) compared to the adjacent skin. Café au lait spots are alternatively referred to as circumscribed café-au-lait hypermelanosis or von Recklinghausen spots.

The two main types of café au lait spots are:

• Coast of California refers to the café au lait with regular and well-defined borders. Their size varies from a few millimeters to a few centimeters, with some exceeding 20 cm. They can manifest as single or numerous spots. This variant is seen in a skin disorder known as Neurofibromatosis 1 (NF1), as well as other similar disorders.
• Coast of Maine, this type of café au lait spots have irregular borders. It is more uncommon, typically larger and single in number. This variant is observed in segmental skin pigmentary disorders, affecting specific regions of the body.

Causes

The precise etiology of café au lait spots in individuals remains unknown. Café au lait spots that appear darker than the surrounding skin are caused by an elevated melanin level. Melanin is a pigment responsible for skin color, produced by melanocytes in the skin. When there is a large amount of café au lait spots where there are more than 6 skin patches, this typically indicates a dermatological condition that may have genetic causes, such as:

• Neurofibromatosis (NF1 and NF2)
• McCune-Albright syndrome
• Ring chromosome syndrome
• Constitutional Mismatch Repair Deficiency (CMMRD)
• Tuberous sclerosis 
• Fanconi anemia
• Bloom Syndrome
• Silver-Russell syndrome
• Legius syndrome
• Noonan syndrome with numerous lentigines
• Watson syndrome

Risk factor

Café au lait spots typically manifest either at birth (congenital) or early infancy. The pigmented areas may grow more prominent as the infant matures, particularly after the lesions are exposed to sunshine, resulting in the lesions having darker colors. In terms of race, café au lait is predominantly observed in black children of African-American descent when considering race. Infants with a familial predisposition to café au lait are also more susceptible to developing this condition.

Symptoms

Typically, café au lait symptoms manifest as skin patches that possess the following characteristics:

• The color of the spot ranges from the shade of light brown to dark brown, like the blend of coffee and milk, and the spot seems darker compared to the surrounding skin
• The skin patches are flat to the adjacent skin
• The sizes of the spots might vary, spanning from a few millimeters to centimeters
• There can be one spot or multiple spots on the skin (if the amount of spots is more than 6, the condition may be linked to certain genetic disorders)
• Exhibits distinct borders with either regular or irregular margins
• The shape of the spot is either circular or oval
• The lesions are devoid of pruritus or discomfort
• The spots can occur anywhere on the body but are most commonly found on the torso, hands, and feet

Diagnosis

In the process of diagnosing café au lait, the doctor will initiate an interview with either the patients or the parents/caretakers of the children. The doctor will inquire about the symptoms the patients have encountered, the timing of the emergence of the spots, the appearance and progression of the spots, the location of the spots, and any familial history of similar spots. A physical examination where the doctor inspects and evaluates the spots will be carried out. The number of cafés au lait spots on your body will also be assessed. More than 6 café au lait spots could be an indication of certain genetic disorders that need to be examined further. Therefore, additional tests, such as genetic testing or MRI scans, may be carried out to help identify the underlying diseases associated with café au lait spots.

Management

Café au lait is a benign condition that typically does not require specific intervention if the number of spots is limited or less than 6. Make-up can be utilized to conceal café au lait spots. Applying sunscreen before engaging in sun-related activities helps to reduce the discoloration of the skin caused by sun exposure, therefore protecting it.

Laser treatment is an alternative method to reduce the visibility of café au lait spots. Lasers that have been documented to diminish café au lait spots include 

• Pulsed-dye Laser
• Er: YAG Laser
• Q-switched Nd: YAG Laser
• Q-switched Ruby or Alexandrite Laser

Nevertheless, lasers do not always have inconsistent outcomes. Studies reveal that skin patches with irregular margins respond more favorably to lasers than spots with smooth and distinct borders. In addition, there are other potential risks associated with laser treatments, including the development of scar tissue and discoloration of skin tone (hypopigmentation, hyperpigmentation, both temporary and permanent).

As mentioned above, if there are more than six spots of café au lait, there may be an underlying hereditary condition that causes the skin condition. In this instance, more testing is required to determine the underlying reason, and further therapy is required in accordance with that finding.

Complications

In general, café au lait spots are benign and do not result in any harmful side effects. An underlying genetic disorder could be suspected if there are more spots than six café au lait spots in the body. Other complications can arise from the suspected underlying genetic disorder. For instance, tumors on the optic nerve, nerve sheath tumors, and leukemia could all be brought on by a genetic disorder, neurofibromatosis.

Prevention

The occurrence of café au lait cannot be prevented because the ways to prevent this are still not known. If you have family members with known genetic disorders, it is better if you plan a genetic consultation before planning a pregnancy.

When to see a doctor?

If you or your child have patches or spots on your skin with different colors from the surrounding skin, you could consult a doctor to get medical advice. Your doctor can assist you in determining the cause of the lesions and the best course of action for treating them.

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