PHACE综合征的诊断标准及治疗进展

Diagnostic criteria and treatment progress of PHACE syndrome

PHACE综合征是面部节段性婴幼儿血管瘤相关的多器官多系统异常的神经皮肤综合征,表现为颅后窝发育异常、婴幼儿血管瘤、大动脉异常、主动脉缩窄和心脏缺陷、眼部异常等症状.该病发病率较低,但是存在危及生命的高风险因素.在临床中一经确诊即需要高度重视,必须进行多学科会诊.本文对PHACE综合征的诊断标准及其相关面部节段性血管瘤、脑部发育异常的治疗和预后进行综述.

PHACE syndrome is a syndrome of multiple organ and multisystem abnormalities associated with infantile segmental hemangioma, characterized by abnormal posterior fossa development, infant hemangioma, aortic abnormalities, aortic coarctation and heart defects, eye anomalies and other symptoms. The incidence of the disease is low, but there exist life-threatening factors. Once clinically diagnosed, it should be highly valued and multidisciplinary consultation must be conducted. This article reviews the diagnostic criteria of PHACE syndrome and its associated facial segmental hemangioma, as well as the treatment and prognosis of brain abnormalities.