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Pediatrics
Diagnosis
Brain
Phakomatoses
PHACE Syndrome
PHACE Syndrome
Bernadette L. Koch, MD; 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, PHACES, PHACE(S)

              • Definitions

                • Infantile hemangioma (IH): Most common benign vascular tumor of infancy; has predictable life cycle with proliferating & involuting phases
                • PHACE(S) acronym
                  • Posterior fossa malformations
                  • Hemangioma (infantile)
                  • Arterial lesions
                  • Cardiac abnormalities/aortic coarctation
                  • Eye abnormalities
                  • Sternal defects or supraumbilical raphe
                    • Has been deemphasized in recent literature
                • PHACE syndrome: Association of characteristic segmental IH or > 5-cm facial/scalp IHs + 1 major or 2 minor criteria
                  • Major criteria are designated for brain, cerebrovascular, cardiovascular, ocular, & ventral/midline findings
                • Possible PHACE: As above + 1 minor criterion or no IH + 2 major criteria

              IMAGING

              • General Features

                • Imaging Recommendations

                  • Ultrasonographic Findings

                    • CT Findings

                      • MR Findings

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Microscopic Features

                                • Immunohistochemical Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Proisy M et al: PHACES syndrome and associated anomalies: risk associated with small and large facial hemangiomas. AJR Am J Roentgenol. 1-8, 2021
                                              2. Mamlouk MD et al: Arterial spin-labeling perfusion for PHACE syndrome. AJNR Am J Neuroradiol. 42(1):173-7, 2020
                                              3. Stefanko NS et al: Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatr Dermatol. 36(5):618-22, 2019
                                              4. Wright JN et al: Asymmetric Meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol. 38(6):1223-7, 2017
                                              5. Garzon MC et al: PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 178:24-33.e2, 2016
                                              6. 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
                                              7. Siegel DH et al: Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 133(3):677-84, 2013
                                              8. Mitchell S et al: Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 158A(6):1363-7, 2012
                                              9. 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
                                              10. Duffy KJ et al: Association of hearing loss with PHACE syndrome. Arch Dermatol. 146(12):1391-6, 2010
                                              11. Hess CP et al: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 31(10):1980-6, 2010
                                              12. Metry D et al: Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 124(5):1447-56, 2009
                                              13. Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
                                              14. 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
                                              15. Judd CD et al: Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol. 28(1):25-9, 2007
                                              16. 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
                                              17. Metry DW: Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg. 23(2):107-15, 2004
                                              18. Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
                                              19. Mulliken JB et al: Vascular anomalies. Curr Probl Surg. 37(8):517-84, 2000
                                              20. Coats DK et al: PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 106(9):1739-41, 1999
                                              21. Boulinguez S et al: Cervicofacial hemangioma and a minor sternal malformation: inclusion in PHACES syndrome? Pediatr Dermatol. 15(2):119-21, 1998
                                              22. Burrows PE et al: Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 207(3):601-7, 1998
                                              23. 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
                                              24. 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
                                              25. 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, PHACES, PHACE(S)

                                                          • Definitions

                                                            • Infantile hemangioma (IH): Most common benign vascular tumor of infancy; has predictable life cycle with proliferating & involuting phases
                                                            • PHACE(S) acronym
                                                              • Posterior fossa malformations
                                                              • Hemangioma (infantile)
                                                              • Arterial lesions
                                                              • Cardiac abnormalities/aortic coarctation
                                                              • Eye abnormalities
                                                              • Sternal defects or supraumbilical raphe
                                                                • Has been deemphasized in recent literature
                                                            • PHACE syndrome: Association of characteristic segmental IH or > 5-cm facial/scalp IHs + 1 major or 2 minor criteria
                                                              • Major criteria are designated for brain, cerebrovascular, cardiovascular, ocular, & ventral/midline findings
                                                            • Possible PHACE: As above + 1 minor criterion or no IH + 2 major criteria

                                                          IMAGING

                                                          • General Features

                                                            • Imaging Recommendations

                                                              • Ultrasonographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Microscopic Features

                                                                            • Immunohistochemical Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Proisy M et al: PHACES syndrome and associated anomalies: risk associated with small and large facial hemangiomas. AJR Am J Roentgenol. 1-8, 2021
                                                                                          2. Mamlouk MD et al: Arterial spin-labeling perfusion for PHACE syndrome. AJNR Am J Neuroradiol. 42(1):173-7, 2020
                                                                                          3. Stefanko NS et al: Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatr Dermatol. 36(5):618-22, 2019
                                                                                          4. Wright JN et al: Asymmetric Meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol. 38(6):1223-7, 2017
                                                                                          5. Garzon MC et al: PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 178:24-33.e2, 2016
                                                                                          6. 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
                                                                                          7. Siegel DH et al: Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 133(3):677-84, 2013
                                                                                          8. Mitchell S et al: Candidate locus analysis for PHACE syndrome. Am J Med Genet A. 158A(6):1363-7, 2012
                                                                                          9. 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
                                                                                          10. Duffy KJ et al: Association of hearing loss with PHACE syndrome. Arch Dermatol. 146(12):1391-6, 2010
                                                                                          11. Hess CP et al: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol. 31(10):1980-6, 2010
                                                                                          12. Metry D et al: Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 124(5):1447-56, 2009
                                                                                          13. Oza VS et al: PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol. 29(4):807-13, 2008
                                                                                          14. 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
                                                                                          15. Judd CD et al: Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol. 28(1):25-9, 2007
                                                                                          16. 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
                                                                                          17. Metry DW: Potential complications of segmental hemangiomas of infancy. Semin Cutan Med Surg. 23(2):107-15, 2004
                                                                                          18. Metry DW et al: The many faces of PHACE syndrome. J Pediatr. 139(1):117-23, 2001
                                                                                          19. Mulliken JB et al: Vascular anomalies. Curr Probl Surg. 37(8):517-84, 2000
                                                                                          20. Coats DK et al: PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 106(9):1739-41, 1999
                                                                                          21. Boulinguez S et al: Cervicofacial hemangioma and a minor sternal malformation: inclusion in PHACES syndrome? Pediatr Dermatol. 15(2):119-21, 1998
                                                                                          22. Burrows PE et al: Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 207(3):601-7, 1998
                                                                                          23. 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
                                                                                          24. 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
                                                                                          25. Pascual-Castroviejo I: Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology. 16:82-4, 1978