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  • Title: [Research progresses in the pathogenesis, diagnosis and treatment of infantile hemangioma with PHACE syndrome].
    Author: Peng SH, Yang KY, Chen SY, Ji Y.
    Journal: Zhongguo Dang Dai Er Ke Za Zhi; 2017 Dec; 19(12):1291-1296. PubMed ID: 29237532.
    Abstract:
    Infant hemangioma, the most common benign tumor in children, is characterized by rapid proliferation, followed by slower spontaneous involution. However, some patients with facial segmental hemangioma are associated with PHACE syndrome. PHACE syndrome is characterized by vascular nerve and vascular cutaneous lesions of multiple systemic systems, often resulting in structural and functional impairments. Recent studies have demonstrated that the possible pathogeneses of PHACE syndrome mainly include hypoxia, abnormality of mesodermal vascular endothelial cells, genetic abnormality, and abnormality of interstitial mesenchymal stem cells. The current medications for hemangioma with PHACE syndrome include beta blockers, glucocorticoids, and mTOR inhibitors. This review article mainly describes the pathogenesis, diagnoses and treatments of PHACE syndrome, in order to provide directions for diagnosis and treatment of this disorder. 婴儿血管瘤（IH）是儿童时期最常见的良性肿瘤，以出生后迅速增长和后期缓慢自然消退为其典型的临床特征。部分面部节段型IH患者可合并PHACE综合征。PHACE综合征为累及全身多个系统的血管神经、血管皮肤病变，常常造成机体结构以及功能损害。近期的研究表明，PHACE综合征发病的可能机制主要包括：缺氧假说、中胚层血管内皮细胞异常假说、基因异常假说、胎盘绒毛膜绒毛间质干细胞假说。目前，IH合并PHACE综合征的治疗药物主要包括β受体阻滞剂、糖皮质激素、mTOR受体抑制剂。本文主要针对IH合并PHACE综合征的发病机制、诊断以及治疗进展进行综述，以期为该病的临床诊治提供帮助。
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