An infant with a facial hemangioma and more.
A patient with a neurocutaneous disorder characterized by large facial infantile hemangiomas and associated abnormalities of the brain, cerebral vasculature, eyes, aorta, heart, and chest wall is presented. All children presenting with segmental infantile hemangiomas should undergo a complete diagnostic workup. We encourage a multidisciplinary clinical approach that minimally includes evaluations by dermatology, cardiology, ophthalmology, radiology, and neurology. The diagnosis of PHACES syndrome is confirmed in a child presenting with the characteristic facial hemangioma and at least 1 associated extracutaneous feature.
Heyer
Geoffrey L
GL
Department of Neurology, Columbia University, New York, NY, USA. Geoffrey.Heyer@nationwidechildrens.org
Garzon
Maria C
MC
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D018376:Cardiovascular Abnormalities / Q000473:pathology; D005153:Facial Neoplasms / Q000473:pathology*; D005260:Female; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D013577:Syndrome