Cafe Au Lait Macules

Excerpt

Cafe-au-lait macules (CALMs) are common hyperpigmented and flat skin lesions found in the general population. They are usually present at birth (congenital) or occur early in life. They may grow in number and size with age. The color varies from light brown to dark brown, and they may be present on any body parts, but the most common location is the trunk and the extremities. The term cafe-au-lait is a French word meaning "coffee with milk."

There are two main types of CALMs. CALMs with regular and clearly demarcated margins ("coast of California"), which is more common. They range in size from a few millimeters to several centimeters (>20cm) and may be present as solitary or multiple spots. The second type of CALM has an irregular margin ("coast of Maine"), which is less common and is usually larger and solitary. The "coast of Maine" pattern is seen in a segmental pigmentary disorder, while the "coast of California" pattern is seen neurofibromatosis 1 (NF1) and related conditions.

CALMs are seen in 95% of patients with NF1. Although solitary CALMs are common in the general population and are familial and inherited as autosomal dominant, multiple spots accompanied by other manifestations may indicate an underlying genetic disorder, and they require further evaluation. A family history of CALMs should be evaluated in any patient with multiple CALMs.