The diagnostic and clinical significance of café-au-lait macules.
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.
Shah
Kara N
KN
Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. shahk@email.chop.edu
D019080:Cafe-au-Lait Spots / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D002669:Child Welfare; D003937:Diagnosis, Differential; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications / Q000175:diagnosis*; D007223:Infant; D007231:Infant, Newborn; D009456:Neurofibromatosis 1 / Q000175:diagnosis; D009508:Nevus, Pigmented / Q000175:diagnosis; D012307:Risk Factors; D012867:Skin / Q000473:pathology*; D012868:Skin Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome