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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- PHACE association or syndrome
Definitions
- Infantile hemangioma (IH): Common benign vascular tumor of infancy with characteristic proliferating & involuting phases
- PHACES: Association of segmental or > 5-cm facial/scalp IH + 1 major or 2 minor criteria (as defined by different abnormalities in each category)
- Posterior fossa malformations
- Hemangioma (infantile)
- Arterial lesions
- Cardiac abnormalities/aortic coarctation
- Eye abnormalities
- Sternal defects or supraumbilical raphe
- Possible PHACE: As above + 1 minor criterion or no IH + 2 major criteria
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
- Meltzer DE et al: Enlargement of the internal auditory canal and associated posterior fossa anomalies in PHACES association. AJNR Am J Neuroradiol. 36(11):2159-62 2015
- Siegel DH et al: Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 133(3):677-84, 2013
- Mitchell S et al: Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 158A(6):1363-7, 2012
- Bracken J et al: PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatr Radiol. 41(9):1129-38, 2011
- Duffy KJ et al: Association of hearing loss with PHACE syndrome. Arch Dermatol. 146(12):1391-6, 2010
- Hess CP et al: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 31(10):1980-6, 2010
- Metry D et al: Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 124(5):1447-56, 2009
- Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
- Puvanachandra N et al: Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? J AAPOS. 12(5):528-30, 2008
- Metry DW et al: A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 140(9):975-86, 2006
- Metry DW: Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg. 23(2):107-15, 2004
- Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
- Mulliken JB et al: Vascular anomalies. Curr Probl Surg. 37(8):517-84, 2000
- Coats DK et al: PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 106(9):1739-41, 1999
- Boulinguez S et al: Cervicofacial hemangioma and a minor sternal malformation: inclusion in PHACES syndrome? Pediatr Dermatol. 15(2):119-21, 1998
- Burrows PE et al: Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 207(3):601-7, 1998
- Frieden IJ et al: PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 132(3):307-11, 1996
- Pascual-Castroviejo I et al: Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. AJNR Am J Neuroradiol. 17(3):461-71, 1996
- Pascual-Castroviejo I: Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology. 16:82-4, 1978
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- PHACE association or syndrome
Definitions
- Infantile hemangioma (IH): Common benign vascular tumor of infancy with characteristic proliferating & involuting phases
- PHACES: Association of segmental or > 5-cm facial/scalp IH + 1 major or 2 minor criteria (as defined by different abnormalities in each category)
- Posterior fossa malformations
- Hemangioma (infantile)
- Arterial lesions
- Cardiac abnormalities/aortic coarctation
- Eye abnormalities
- Sternal defects or supraumbilical raphe
- Possible PHACE: As above + 1 minor criterion or no IH + 2 major criteria
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
- Meltzer DE et al: Enlargement of the internal auditory canal and associated posterior fossa anomalies in PHACES association. AJNR Am J Neuroradiol. 36(11):2159-62 2015
- Siegel DH et al: Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 133(3):677-84, 2013
- Mitchell S et al: Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 158A(6):1363-7, 2012
- Bracken J et al: PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatr Radiol. 41(9):1129-38, 2011
- Duffy KJ et al: Association of hearing loss with PHACE syndrome. Arch Dermatol. 146(12):1391-6, 2010
- Hess CP et al: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 31(10):1980-6, 2010
- Metry D et al: Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 124(5):1447-56, 2009
- Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
- Puvanachandra N et al: Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome? J AAPOS. 12(5):528-30, 2008
- Metry DW et al: A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 140(9):975-86, 2006
- Metry DW: Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg. 23(2):107-15, 2004
- Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
- Mulliken JB et al: Vascular anomalies. Curr Probl Surg. 37(8):517-84, 2000
- Coats DK et al: PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 106(9):1739-41, 1999
- Boulinguez S et al: Cervicofacial hemangioma and a minor sternal malformation: inclusion in PHACES syndrome? Pediatr Dermatol. 15(2):119-21, 1998
- Burrows PE et al: Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 207(3):601-7, 1998
- Frieden IJ et al: PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 132(3):307-11, 1996
- Pascual-Castroviejo I et al: Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. AJNR Am J Neuroradiol. 17(3):461-71, 1996
- Pascual-Castroviejo I: Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology. 16:82-4, 1978
