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PHACES综合征表现为血管瘤、胸骨裂和耳廓先天性溃疡。

PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices.

作者信息

Durusoy Cicek, Mihci Ercan, Tacoy Sukran, Ozaydin Eda, Alpsoy Erkan

机构信息

Department of Dermatology, Baskent University School of Medicine, Alanya, Turkey.

出版信息

J Dermatol. 2006 Mar;33(3):219-22. doi: 10.1111/j.1346-8138.2006.00050.x.

Abstract

Sternal malformation/vascular dysplasia association is a very rare condition comprised of midline defects and hemangiomas of the face and anterior trunk, that can be found as part of the PHACES phenotypic spectrum (posterior fossa malformations, hemangiomas, arterial anomalies, coarctations of the aorta, cardiac defects and eye abnormalities, sternal clefting). Herein, we describe a 6-month-old boy with sternal cleft, extensive segmental hemangiomas, and a depigmented scar on the tip of the xyphoid process, corresponding to a sternal malformation/vascular dysplasia association. He also had bilateral cutaneous ulcerations on the helices. Our case report indicates that ulceration of a hemangioma can occur before significant proliferation and may even be present congenitally.

摘要

胸骨畸形/血管发育异常综合征是一种非常罕见的疾病,由面部和躯干前部的中线缺陷及血管瘤组成,可作为PHACES表型谱(后颅窝畸形、血管瘤、动脉异常、主动脉缩窄、心脏缺陷和眼部异常、胸骨裂)的一部分出现。在此,我们描述一名6个月大的男婴,患有胸骨裂、广泛的节段性血管瘤以及剑突尖端的色素脱失瘢痕,符合胸骨畸形/血管发育异常综合征。他还在双侧耳轮处有皮肤溃疡。我们的病例报告表明,血管瘤溃疡可能在显著增殖之前就已发生,甚至可能先天性存在。

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