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Consensus Statement on Diagnostic Criteria for PHACE Syndrome Metry D; Heyer G; Hess C; Garzon M; Haggstrom A; Frommelt P; Adams D; Siegel D; Hall K; Powell J; Frieden I; Drolet BPediatrics 2009[Nov]; 124 (5): 1447-56OBJECTIVES: A subgroup of patients with infantile hemangiomas have associated structural anomalies of the brain, cerebral vasculature, eyes, sternum, and/or aorta in the neurocutaneous disorder known as PHACE syndrome. The diagnosis has been broadly inclusive by using a case definition of a facial hemangioma plus >or=1 extracutaneous features, leading to numerous reports of potential associated disease features, many of uncertain significance. This consensus statement was thus developed to establish diagnostic criteria for PHACE syndrome. METHODS: A multidisciplinary group of specialists with expertise in PHACE syndrome drafted initial diagnostic criteria on the basis of review of published, peer-reviewed medical literature and clinical experience. The group then convened in both executive and general sessions during the PHACE Syndrome Research Conference held in November 2008 for discussion and used a consensus method. All conflicting recommendations were subsequently reconciled via electronic communication and teleconferencing. RESULTS: These criteria were stratified into 2 categories: (1) PHACE syndrome or (2) possible PHACE syndrome. Major and minor criteria were determined for the following organ systems: cerebrovascular, structural brain, cardiovascular, ocular, and ventral/midline. Definite PHACE requires the presence of a characteristic segmental hemangioma or hemangioma >5 cm on the face or scalp plus 1 major criterion or 2 minor criteria. Possible PHACE requires the presence of a hemangioma >5 cm on the face or scalp plus 1 minor criterion. The group recognized that it may be possible to have PHACE syndrome with a hemangioma affecting the neck, chest, or arm only or no cutaneous hemangioma at all. In such cases, fulfillment of additional required criteria would also lead to a possible PHACE diagnosis. CONCLUSIONS: These criteria represent current knowledge and are expected to enhance future assessments of PHACE syndrome. It is understood that modifications are to be expected over time to incorporate new research findings.|Abnormalities, Multiple/*diagnosis[MESH]|Aorta/abnormalities[MESH]|Brain/abnormalities[MESH]|Eye Abnormalities/diagnosis[MESH]|Head and Neck Neoplasms/congenital/*diagnosis/pathology[MESH]|Hemangioma/congenital/*diagnosis/pathology[MESH]|Humans[MESH]|Infant[MESH]|Neurocutaneous Syndromes/*diagnosis[MESH]|Sternum/abnormalities[MESH]|Syndrome[MESH] |
