Cafe-au-lait, also referred to as cafe-au-lait spots or cafe-au-lait macules, present as well-circumscribed, evenly pigmented macules and patches that range in size from 1 to 2 mm to greater than 20 cm in greatest diameter. Cafe-au-lait are common in children. Although most cafe-au-lait present as 1 or 2 spots in an otherwise healthy child, the presence of multiple cafe-au-lait, large segmental cafe-au-lait, associated facial dysmorphism, other cutaneous anomalies, or unusual findings on physical examination should suggest the possibility of an associated syndrome. While neurofibromatosis type 1 is the most common syndrome seen in children with multiple cafe-au-lait, other syndromes associated with one or more cafe-au-lait include McCune-Albright syndrome, Legius syndrome, Noonan syndrome and other neuro-cardio-facialcutaneous syndromes, ring chromosome syndromes, and constitutional mismatch repair deficiency syndrome.
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