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一例大气道和眼眶血管瘤合并面部毛细血管畸形。

A case of large airway and orbital hemangiomas with facial capillary malformation.

机构信息

College of Medicine, University of Florida, Gainesville, Florida, USA.

Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

出版信息

Pediatr Dermatol. 2023 Nov-Dec;40(6):1142-1144. doi: 10.1111/pde.15340. Epub 2023 May 10.

Abstract

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co-occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5-week-old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.

摘要

婴儿血管瘤(IHs)是最常见的儿科血管肿瘤,尽管其遗传病因在很大程度上尚不清楚。先天性毛细血管畸形(CMs)与已知的体细胞致病性变异有关,包括 GNAQ、GNA11、PIK3CA 和 PIK3R1。面部 CM(如葡萄酒色斑)与 IH 同时发生并不与任何已知的血管异常综合征相关,在文献中也很少报道。我们描述了一例 5 周大的女性患者,她的面部有一个大的 CM 和广泛的下唇、气道和眼眶 IH,她出现了气道阻塞,并对普萘洛尔治疗有反应。

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