PDF(Pubmed)
Abstract：
Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.
摘要：
Klippel-Trenaunay综合征并不常见,罕见，以毛细血管畸形三联征为特征的先天性疾病，静脉曲张,组织和骨骼肥大。这三个体征中的两个的存在足以获得诊断。毛细血管畸形通常在出生时出现，而静脉静脉曲张和肢体肥大在以后变得更加明显。这种综合征通常是良性的，但是涉及各种器官的严重并发症，如胃肠道和泌尿生殖器官，以及中枢神经系统，可以观察到。最近,Klippel-Trenaunay综合征已包括在PIK3CA相关的过度生长谱（PROS）疾病组中。就这种疾病而言，在病因和治疗方式方面取得了新的成果。我们在这里报道了最近的遗传发现，主要临床特点及相关严重并发症,有类似疾病的鉴别诊断，以及对这种复杂而罕见的综合征患者的管理。
