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Infantile Hemangioma and PHACES Association
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • PHACE association or syndrome
              • Definitions

                • Infantile hemangioma: Most common benign vascular tumor of infancy; proliferating and involuting phases
                • PHACES acronym
                  • Posterior fossa malformations
                  • Hemangioma
                  • Arterial lesions
                  • Cardiac abnormalities/aortic coarctation
                  • Eye abnormalities
                  • Sternal defects or supraumbilical raphe
                • PHACES: Association of characteristic regional or > 5 cm facial/scalp hemangioma + 1 major or 2 minor criteria
                  • Major criteria designated for brain, cerebrovascular, cardiovascular, ocular, and ventral/midline findings
                • Possible PHACE: As above + 1 minor criterion or no hemangioma + 2 major criteria

              IMAGING

              • General Features

                • Imaging Recommendations

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              • Reporting Tips

                                                Selected References

                                                1. 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
                                                2. Siegel DH et al: Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 133(3):677-84, 2013
                                                3. Mitchell S et al: Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 158A(6):1363-7, 2012
                                                4. 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
                                                5. Duffy KJ et al: Association of hearing loss with PHACE syndrome. Arch Dermatol. 146(12):1391-6, 2010
                                                6. Hess CP et al: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 31(10):1980-6, 2010
                                                7. Metry D et al: Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 124(5):1447-56, 2009
                                                8. Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
                                                9. 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
                                                10. 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
                                                11. Metry DW: Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg. 23(2):107-15, 2004
                                                12. Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
                                                13. Mulliken JB et al: Vascular anomalies. Curr Probl Surg. 37(8):517-84, 2000
                                                14. Coats DK et al: PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 106(9):1739-41, 1999
                                                15. Boulinguez S et al: Cervicofacial hemangioma and a minor sternal malformation: inclusion in PHACES syndrome? Pediatr Dermatol. 15(2):119-21, 1998
                                                16. Burrows PE et al: Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 207(3):601-7, 1998
                                                17. 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
                                                18. 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
                                                19. Pascual-Castroviejo I: Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology. 16:82-4, 1978
                                                Related Anatomy
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                                                Related Differential Diagnoses
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                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Synonyms

                                                              • PHACE association or syndrome
                                                            • Definitions

                                                              • Infantile hemangioma: Most common benign vascular tumor of infancy; proliferating and involuting phases
                                                              • PHACES acronym
                                                                • Posterior fossa malformations
                                                                • Hemangioma
                                                                • Arterial lesions
                                                                • Cardiac abnormalities/aortic coarctation
                                                                • Eye abnormalities
                                                                • Sternal defects or supraumbilical raphe
                                                              • PHACES: Association of characteristic regional or > 5 cm facial/scalp hemangioma + 1 major or 2 minor criteria
                                                                • Major criteria designated for brain, cerebrovascular, cardiovascular, ocular, and ventral/midline findings
                                                              • Possible PHACE: As above + 1 minor criterion or no hemangioma + 2 major criteria

                                                            IMAGING

                                                            • General Features

                                                              • Imaging Recommendations

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Ultrasonographic Findings

                                                                      DIFFERENTIAL DIAGNOSIS

                                                                        PATHOLOGY

                                                                        • General Features

                                                                          • Staging, Grading, & Classification

                                                                            • Gross Pathologic & Surgical Features

                                                                              • Microscopic Features

                                                                                CLINICAL ISSUES

                                                                                • Presentation

                                                                                  • Demographics

                                                                                    • Natural History & Prognosis

                                                                                      • Treatment

                                                                                        DIAGNOSTIC CHECKLIST

                                                                                        • Consider

                                                                                          • Image Interpretation Pearls

                                                                                            • Reporting Tips

                                                                                              Selected References

                                                                                              1. 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
                                                                                              2. Siegel DH et al: Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 133(3):677-84, 2013
                                                                                              3. Mitchell S et al: Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 158A(6):1363-7, 2012
                                                                                              4. 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
                                                                                              5. Duffy KJ et al: Association of hearing loss with PHACE syndrome. Arch Dermatol. 146(12):1391-6, 2010
                                                                                              6. Hess CP et al: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 31(10):1980-6, 2010
                                                                                              7. Metry D et al: Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 124(5):1447-56, 2009
                                                                                              8. Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
                                                                                              9. 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
                                                                                              10. 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
                                                                                              11. Metry DW: Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg. 23(2):107-15, 2004
                                                                                              12. Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
                                                                                              13. Mulliken JB et al: Vascular anomalies. Curr Probl Surg. 37(8):517-84, 2000
                                                                                              14. Coats DK et al: PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 106(9):1739-41, 1999
                                                                                              15. Boulinguez S et al: Cervicofacial hemangioma and a minor sternal malformation: inclusion in PHACES syndrome? Pediatr Dermatol. 15(2):119-21, 1998
                                                                                              16. Burrows PE et al: Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 207(3):601-7, 1998
                                                                                              17. 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
                                                                                              18. 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
                                                                                              19. Pascual-Castroviejo I: Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology. 16:82-4, 1978