Martin Kari L, Arvedson Joan C, Bayer Michelle L, Drolet Beth A, Chun Robert, Siegel Dawn H
Department of Dermatology , University of Missouri at Columbia, Columbia, Missouri; Department of Pediatrics, University of Missouri at Columbia, Columbia, Missouri.
Pediatr Dermatol. 2015 Jan-Feb;32(1):64-9. doi: 10.1111/pde.12447. Epub 2014 Dec 2.
PHACE (posterior fossa, hemangioma, arterial lesions, cardiac, and eye) syndrome consists of infantile hemangiomas of the head and neck along with a spectrum of noncutaneous anomalies. Neurodevelopmental abnormalities have also been noted. Here we describe the association between PHACE syndrome and abnormalities in oropharyngeal development and coordination manifesting as dysphagia or speech and language delay. A retrospective chart review was conducted of 34 patients with PHACE syndrome. Data were collected from prior clinical notes and radiographic studies and the results of a comprehensive questionnaire that those who attended the July 2012 PHACE Syndrome Family Conference completed. Seventeen of 34 patients with PHACE syndrome and signs or symptoms of dysphagia or speech or language problems were included for analysis. Nine had dysphagia, seven had a history of cardiac surgery, four had a posterior fossa malformation, and seven had lip or oropharynx hemangiomas. Speech or language delay was noted in 16; posterior fossa abnormalities and lip or oropharynx hemangiomas were the most commonly seen associated finding in this group. There was considerable overlap between subset populations with dysphagia, speech delay, and language delay. A subset of individuals with PHACE syndrome experience dysphagia, speech delay, or language delay. This risk seems to be greater in certain subsets of patients, including those with posterior fossa malformations or lip or oropharynx hemangiomas and those with a history of cardiac surgery. Although this descriptive study was not comprehensive enough to examine prevalence, the high incidence of dysphagia and speech and language delay seen in our cohort warrants future prospective studies to further investigate the association.
PHACE（后颅窝、血管瘤、动脉病变、心脏和眼部）综合征由头颈部的婴儿血管瘤以及一系列非皮肤异常组成。神经发育异常也已被注意到。在此，我们描述PHACE综合征与口咽发育及协调异常之间的关联，这些异常表现为吞咽困难或言语及语言发育迟缓。对34例PHACE综合征患者进行了回顾性病历审查。数据收集自先前的临床记录、影像学研究以及参加2012年7月PHACE综合征家庭会议的患者所完成的一份综合问卷的结果。34例有吞咽困难或言语或语言问题体征或症状的PHACE综合征患者中有17例被纳入分析。9例有吞咽困难，7例有心脏手术史，4例有后颅窝畸形，7例有唇部或口咽血管瘤。16例有言语或语言发育迟缓；后颅窝异常以及唇部或口咽血管瘤是该组中最常见的相关发现。吞咽困难、言语发育迟缓及语言发育迟缓的亚组人群之间有相当大的重叠。一部分PHACE综合征患者会出现吞咽困难、言语发育迟缓或语言发育迟缓。这种风险在某些亚组患者中似乎更高，包括那些有后颅窝畸形或唇部或口咽血管瘤的患者以及有心脏手术史的患者。尽管这项描述性研究不够全面，无法考察患病率，但我们队列中观察到的吞咽困难以及言语和语言发育迟缓的高发生率值得未来进行前瞻性研究以进一步探究这种关联。
