Glomuvenous malformation (Glomangioma) and venous malformation - Distinct clinicopathologic and genetic entities
Glomuvenous malformation (Glomangioma) and venous malformation - Distinct clinicopathologic and genetic entities
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DOI：
10.1001/archderm.140.8.971
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发表时间：
2004-08-01
影响因子：
--
通讯作者：
Vikkula, M
中科院分区：
文献类型：
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作者：
Boon, LM;Mulliken, JB;Vikkula, M
目的：开发临床标准，允许遗传性血管球静脉畸形（GVM），称为血管球瘤，和遗传性皮肤粘液瘤静脉畸形和测试这些标准上散发lessons.Design：临床资料汇编为1685例遗传性或散发性皮肤静脉畸形。基于TIE 2或球蛋白基因突变或组织学诊断的患者队列，我们定义了遗传性GVM和皮肤粘液静脉畸形的临床标准。然后，我们将这些标准应用于散发病例中的盲法和遗传学或组织学证实这一临床diagnosis whenever possible.Results：血管球静脉畸形占5.1%的静脉异常，并经常遗传（63.8%），而静脉畸形很少有家族性（1.2%）。血管球静脉畸形呈结节状和散在分布，或斑块状和节段性，颜色从粉红色到紫色深蓝色不等，而大多数静脉畸形（VM）是软的，蓝色的，通常是局部血管病变。血管球静脉畸形主要发生在四肢，累及皮肤和皮下组织，而VM则多累及肌肉和关节（P
Objectives: To develop clinical criteria that permit clinical distinction between inherited glomuvenous malformation (GVM), known as glomangioma, and inherited cutaneomucosal venous malformation and to test these criteria on sporadic lesions.Design: Clinical data were compiled for 1685 patients with inherited or sporadic cutaneous venous anomalies. Based on a cohort of patients with a mutation in the TIE2 or glomulin gene or a histologic diagnosis, we defined clinical criteria for inherited GVM and cutaneomucosal venous malformation. We then applied these criteria to sporadic cases in a blinded manner and genetically or histologically confirmed this clinical diagnosis whenever possible.Results: Glomuvenous malformations accounted for 5.1% of venous anomalies and were frequently inherited (63.8%), whereas venous malformations were rarely familial (1.2%). Glomuvenous malformations were nodular and scattered, or plaque-like and segmental, with color varying from pink to purplish dark blue, whereas most venous malformations (VMs) were soft, blue, and often localized vascular lesions. Glomuvenous malformations were mainly located on the extremities and involved skin and subcutis, whereas VMs commonly affected muscles and joints (P