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

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

Author information

  • Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. shahk@email.chop.edu

Abstract

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.

Copyright © 2010 Elsevier Inc. All rights reserved.

PMID:
20888463
[PubMed - indexed for MEDLINE]
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