Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Clin Genet. 2020 Dec;98(6):595-597. doi: 10.1111/cge.13833. Epub 2020 Sep 2.
Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish-purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained somatic KRAS mutations. A rare AVM phenotype exists that shares clinical features with congenital hemangioma.
颅外动静脉畸形（AVM）最常见的病因是 MAP2K1 的种系突变。我们报告了两例血管异常患者，其临床诊断最符合 AVM 或先天性血管瘤。病变为皮肤性，呈紫红色，伴有毛细血管扩张，出生时即存在，边界清晰。组织病理学提示 AVM，且两处病变均存在 KRAS 种系突变。存在一种罕见的 AVM 表型，其临床表现与先天性血管瘤相似。
