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

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.

• Authors: Kara N Shah
• Journal: Pediatric clinics of North America (Pediatr Clin North Am) Vol. 57 Issue 5 Pg. 1131-53 (Oct 2010) ISSN: 1557-8240 [Electronic] United States
• PMID: 20888463 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2010 Elsevier Inc. All rights reserved.

Topics

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