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Infantile Hemangioma and PHACES Association
Caroline D. Robson, MBChB
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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

                                            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

                                                  • 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

                                                                                      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