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Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics 2010 Aug;126(2):e418-26 PMID: 20643720

Pubmed ID





OBJECTIVES: This study was conducted to determine the prevalence of posterior fossae of the brain, arterial anomalies, cardiac anomalies, and eye anomalies (PHACE) in infants with large facial hemangiomas. The extracutaneous manifestations of PHACE may be associated with significant morbidity, and the prevalence of PHACE in patients with facial hemangiomas has not previously been reported.

METHODS: A multicenter prospective study was conducted with 108 infants who had large facial hemangiomas and were systematically evaluated for manifestations of PHACE. The prevalence of PHACE and its extracutaneous manifestations in this cohort was calculated. The relationship between hemangioma distribution and the manifestations of PHACE was analyzed.

RESULTS: Thirty-three (31%) of 108 had PHACE. Thirty of the 33 patients with PHACE had >1 extracutaneous finding. The risk for PHACE syndrome was higher in infants with larger hemangiomas and in those with hemangiomas that encompassed >1 facial segment. The most common extracutaneous anomalies observed in infants with PHACE were of the arteries of the cerebrovasculature (91%) and cardiac anomalies (67%). Upper face (frontotemporal and frontonasal) hemangiomas were commonly observed in infants with PHACE; isolated maxillary hemangiomas were rarely associated with PHACE.

CONCLUSIONS: In infants with large facial hemangiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome, most commonly cerebrovascular and cardiovascular anomalies. The high prevalence of arterial anomalies in this cohort has implications for clinical management and future research regarding the pathophysiology of PHACE.

Author List

Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K, Maguiness S, Mancini AJ, McCuaig C, Metry DW, Morel K, Powell J, Perkins SM, Siegel D, Drolet BA


Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin


2-s2.0-77955496115   86 Citations

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Airway Obstruction
Cerebrovascular Disorders
Ear Diseases
Eye Diseases
Facial Neoplasms
Gestational Age
Heart Defects, Congenital
Infant, Newborn
Neurocutaneous Syndromes
Prospective Studies
jenkins-FCD Prod-332 f92a19b0ec5e8e1eff783fac390ec127e367c2b5