Colmenero Isabel, Knöpfel Nicole
Department of Pathology, Hospital Infantil Universitario Niño Jesús, 28009 Madrid, Spain.
Department of Dermatology, Great Ormond Street Hospital for Children and UCL GOS Institute of Child Health, London WC1N 3JH, UK.
Dermatopathology (Basel). 2021 Oct 15;8(4):477-493. doi: 10.3390/dermatopathology8040050.
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed.
在过去十年中,随着关键分子途径和基因突变的发现,我们对血管异常的认识有了巨大的增长,这些分子途径和基因突变驱动了血管肿瘤和血管畸形的发展。这使我们能够更好地理解血管病变的发病机制,完善其诊断并更新其分类,同时也探索了靶向分子治疗的机会。本文旨在概述儿童期静脉畸形(VM)。具体类型包括常见静脉畸形、皮肤黏膜静脉畸形、蓝色橡皮疱痣综合征或Bean综合征、静脉球瘤畸形、脑海绵状畸形、家族性骨内血管畸形和疣状静脉畸形。本文对每种类型的临床病理特征和分子基础进行了综述。