Risk for PHACE syndrome in infants with large facial hemangiomas

Anita N. Haggstrom, Maria C. Garzon, Eulalia Baselga, Sarah L. Chamlin, Ilona J. Frieden, Kristen Holland, Sheilagh Maguiness, Anthony J. Mancini, Catherine McCuaig, Denise W. Metry, Kimberly Morel, Julie Powell, Susan M. Perkins, Dawn Siegel, Beth A. Drolet

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Abstract

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.

Original languageEnglish (US)
JournalPediatrics
Volume126
Issue number2
DOIs
StatePublished - Aug 1 2010

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Hemangioma
Multicenter Studies
Arteries
Prospective Studies
Morbidity
Brain

Keywords

  • Cerebrovascular anomalies
  • Hemangioma
  • Neurocutaneous
  • PHACE syndrome
  • Vascular birthmark

Cite this

Haggstrom, A. N., Garzon, M. C., Baselga, E., Chamlin, S. L., Frieden, I. J., Holland, K., ... Drolet, B. A. (2010). Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics, 126(2). https://doi.org/10.1542/peds.2009-3166

Risk for PHACE syndrome in infants with large facial hemangiomas. / Haggstrom, Anita N.; Garzon, Maria C.; Baselga, Eulalia; Chamlin, Sarah L.; Frieden, Ilona J.; Holland, Kristen; Maguiness, Sheilagh; Mancini, Anthony J.; McCuaig, Catherine; Metry, Denise W.; Morel, Kimberly; Powell, Julie; Perkins, Susan M.; Siegel, Dawn; Drolet, Beth A.

In: Pediatrics, Vol. 126, No. 2, 01.08.2010.

Research output: Contribution to journalArticle

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 2010, 'Risk for PHACE syndrome in infants with large facial hemangiomas', Pediatrics, vol. 126, no. 2. https://doi.org/10.1542/peds.2009-3166
Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K et al. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics. 2010 Aug 1;126(2). https://doi.org/10.1542/peds.2009-3166
Haggstrom, Anita N. ; Garzon, Maria C. ; Baselga, Eulalia ; Chamlin, Sarah L. ; Frieden, Ilona J. ; Holland, Kristen ; Maguiness, Sheilagh ; Mancini, Anthony J. ; McCuaig, Catherine ; Metry, Denise W. ; Morel, Kimberly ; Powell, Julie ; Perkins, Susan M. ; Siegel, Dawn ; Drolet, Beth A. / Risk for PHACE syndrome in infants with large facial hemangiomas. In: Pediatrics. 2010 ; Vol. 126, No. 2.
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abstract = "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.",
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AU - Garzon, Maria C.

AU - Baselga, Eulalia

AU - Chamlin, Sarah L.

AU - Frieden, Ilona J.

AU - Holland, Kristen

AU - Maguiness, Sheilagh

AU - Mancini, Anthony J.

AU - McCuaig, Catherine

AU - Metry, Denise W.

AU - Morel, Kimberly

AU - Powell, Julie

AU - Perkins, Susan M.

AU - Siegel, Dawn

AU - Drolet, Beth A.

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N2 - 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.

AB - 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.

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KW - Hemangioma

KW - Neurocutaneous

KW - PHACE syndrome

KW - Vascular birthmark

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