Consensus Statement on Diagnostic Criteria for PHACE Syndrome
Consensus Statement on Diagnostic Criteria for PHACE Syndrome
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DOI：
10.1542/peds.2009-0082
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发表时间：
2009-11-01
期刊：
影响因子：
8
通讯作者：
Drolet, Beth
中科院分区：
文献类型：
--
作者：
Metry, Denise;Heyer, Geoffrey;Drolet, Beth
目的：婴儿血管瘤患者的一个亚组与称为 PHACE 综合征的神经皮肤疾病中的大脑、脑血管系统、眼睛、胸骨和/或主动脉的结构异常相关。通过使用面部血管瘤加> = 1个皮外特征的病例定义，诊断具有广泛的包容性，导致大量潜在相关疾病特征的报告，其中许多具有不确定的意义。因此，制定本共识声明是为了建立 PHACE 综合征的诊断标准。方法：具有 PHACE 综合征专业知识的多学科专家组在审查已发表的同行评审医学文献和临床经验的基础上起草了初步诊断标准。随后，该小组在 2008 年 11 月举行的 PHACE 综合征研究会议期间召开了执行会议和全体会议进行讨论，并采用了共识方法。所有骗局。随后通过电子通信和电话会议对相互冲突的建议进行协调。结果：这些标准分为 2 类：(1) PHACE 综合征或 (2) 可能的 PHACE 综合征。确定以下器官系统的主要和次要标准：脑血管、结构脑、心血管、眼和腹侧/中线。明确的 PHACE 要求存在特征性节段性血管瘤或面部或头皮上 >5 厘米的血管瘤加上 1 个主要标准或 2 个次要标准。可能的 PHACE 要求面部或头皮上存在 >5 厘米的血管瘤，再加上 1 个次要标准。该小组认识到，可能患有 PHACE 综合征，血管瘤仅影响颈部、胸部或手臂，或者根本不影响皮肤血管瘤。在这种情况下，满足其他所需标准也将导致可能的 PHACE 诊断。结论：这些标准代表了当前的知识，预计将增强未来对 PHACE 综合征的评估。据了解，莫迪.随着时间的推移，预计阳离子将纳入新的研究成果。儿科2009； 124：1447-1456
OBJECTIVES: 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 >= 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 con. flicting 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 modi. cations are to be expected over time to incorporate new research findings. Pediatrics 2009; 124: 1447-1456