儿童卡波希血管内皮瘤的临床诊疗进展

Clinical Diagnosis and Treatment Advances in Kaposiform Hemangioendothelioma in Children

摘要: 卡波希血管内皮瘤(Kaposiform hemangioendothelioma, KHE)是一种罕见的、好发于婴幼儿及儿童的、具有局部侵袭性的内皮源性脉管肿瘤，病因尚不完全明确，病理表现为弥漫性血管与淋巴管的侵袭性增殖，临床表现根据发病部位、病变大小、是否伴发并发症等不同，具有明显的异质性。通常表现为浸润性生长、边界不清的皮下肿块，皮肤呈深浅不一的红色或紫色，病变累及骨骼、肌肉者，可能出现疼痛，关节受累可导致功能障碍。KHE常合并卡梅现象(Kasabach-Merritt phenomenon, KMP)，表现为血小板减少、低纤维蛋白血症和凝血因子消耗，是导致患儿死亡的主要原因。临床诊断主要依赖于临床表现、影像学及组织学。治疗手段包括手术切除、局部或全身药物治疗、介入栓塞和物理辅助治疗。随着对KHE的认识不断加深，多数患儿可实现临床治愈，部分患儿会遗留外观畸形、慢性疼痛和功能障碍。本文梳理了从病理机制到治疗预后的全流程，特别是整合了西罗莫司的最新应用经验，对临床医生具有较高的参考价值。

Abstract: Kaposiform hemangioendothelioma (KHE) is a rare, locally invasive vascular tumor that typically arises during infancy or early childhood. The etiology is not completely clear. The pathological manifestation is diffuse invasive proliferation of blood vessels and lymph vessels. The clinical manifestations vary according to the location of the disease, the size of the lesion and whether it is accompanied by complications. It usually presents as an invasive growth, an ill-defined subcutaneous mass, and skin with different shades of red or purple. Lesions involving bones and muscles, which may cause pain, and joint involvement may lead to dysfunction. KHE is often associated with Kasabach-Merritt phenomenon (KMP), characterized by thrombocytopenia, hypofibrinemia, and coagulation factor depletion, which is the leading cause of death in children. Clinical diagnosis depends mainly on clinical manifestations, imaging, and histology. Treatment options include surgical resection, local or systemic drug therapy, interventional embolization, and physical adjuvant therapy. With the deepening understanding of KHE, most children can achieve clinical cure, while some children will leave appearance deformity, chronic pain and dysfunction. This article systematically combs the whole process from pathological mechanism to treatment prognosis of KHE, and especially integrates the latest application experience of sirolimus, which has high reference value for clinicians.