The diagnostic and clinical significance of café-au-lait macules

Pediatr Clin North Am. 2010 Oct;57(5):1131-53. doi: 10.1016/j.pcl.2010.07.002.


Café-au-lait, also referred to as café-au-lait spots or café-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. Café-au-lait are common in children. Although most café-au-lait present as 1 or 2 spots in an otherwise healthy child, the presence of multiple café-au-lait, large segmental café-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 café-au-lait, other syndromes associated with one or more café-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.

Publication types

  • Review

MeSH terms

  • Cafe-au-Lait Spots / complications
  • Cafe-au-Lait Spots / diagnosis*
  • Cafe-au-Lait Spots / pathology
  • Child
  • Child Welfare
  • Diagnosis, Differential
  • Humans
  • Hyperpigmentation / complications
  • Hyperpigmentation / diagnosis*
  • Infant
  • Infant, Newborn
  • Neurofibromatosis 1 / diagnosis
  • Nevus, Pigmented / diagnosis
  • Risk Factors
  • Skin / pathology*
  • Skin Abnormalities / complications
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / pathology
  • Syndrome