A café au lait spot is a type of skin lesion that appears as a flat, light brown patch on the skin. The name comes from the French words for “coffee with milk,” as the spots are typically the color of coffee with added milk. Café au lait spots are usually oval or circular in shape and can vary in size from a few millimeters to several centimeters in diameter.
Café au lait spots are a common feature of several genetic conditions, including neurofibromatosis type 1 (NF1), McCune-Albright syndrome, and Fanconi anemia. In NF1, café au lait spots are one of the diagnostic criteria, and people with NF1 typically have multiple spots that are larger than 5 mm in diameter. In McCune-Albright syndrome, café au lait spots are often accompanied by other features such as bone abnormalities and hormonal imbalances. In Fanconi anemia, café au lait spots are a less common feature but may be present in some individuals.
While café au lait spots themselves are usually harmless, they can be a sign of an underlying genetic condition, particularly if they are large, numerous, or accompanied by other symptoms. People with café au lait spots may be referred to a geneticist or other specialist for further evaluation and testing. Treatment for café au lait spots typically involves monitoring for signs of associated conditions and addressing any medical issues as needed.