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

• Published in: The Pediatric clinics of North America Vol. 57; no. 5; p. 1131
• Main Author: Shah, Kara N
• Format: Journal Article
• Language: English
• Published: United States 01.10.2010
• Subjects: 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
• ISSN: 1557-8240
• 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.