Risk for PHACE syndrome in infants with large facial hemangiomas.
OBJECTIVE
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.
Haggstrom
Anita N
AN
Department of Dermatology and Pediatrics, Division of Biostatistics, Indiana University, Indianapolis, Indiana, USA. ahaggstr@iupui.edu
Garzon
Maria C
MC
Baselga
Eulalia
E
Chamlin
Sarah L
SL
Frieden
Ilona J
IJ
Holland
Kristen
K
Maguiness
Sheilagh
S
Mancini
Anthony J
AJ
McCuaig
Catherine
C
Metry
Denise W
DW
Morel
Kimberly
K
Powell
Julie
J
Perkins
Susan M
SM
Siegel
Dawn
D
Drolet
Beth A
BA
D000015:Abnormalities, Multiple / Q000473:pathology; D000402:Airway Obstruction / Q000150:complications; D002561:Cerebrovascular Disorders / Q000150:complications* / Q000473:pathology*; D004427:Ear Diseases / Q000150:complications*; D005128:Eye Diseases / Q000150:complications*; D005153:Facial Neoplasms / Q000150:complications* / Q000473:pathology*; D005260:Female; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000150:complications*; D006391:Hemangioma / Q000150:complications* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000473:pathology*; D011446:Prospective Studies; D013577:Syndrome