Diffuse hepatocutaneous hemangiomatosis: an unusual presentation.

Q3 Medicine
M. Velayos, K. Estefanía-Fernández, A. Muñoz-Serrano, C. Delgado-Miguel, M. C. S. Sarmiento Caldas, L. Moratilla, M. B. Beato Merino, P. Triana, J. López-Gutiérrez
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引用次数: 0

Abstract

INTRODUCTION Infantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional. CLINICAL CASE 4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing. DISCUSSION No explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this.
弥漫性肝皮肤血管瘤病:一种不寻常的表现。
婴幼儿血管瘤累及多器官是罕见的,以无法控制的出血为表现是罕见的。临床病例:4日龄新生儿肝皮肤多发血管瘤,右手无名指呈紫色血管病变。在生命的第三周,病变开始溃烂并导致无法控制的出血。因此,需要紧急截肢,组织病理学结果为GLUT-1阳性的婴儿血管瘤,结构与深部动静脉畸形相一致。影像学检查显示是高血流损伤。基因检测(MAP2KI、RASA 1、EPHB4、GNAQ和GNA 11)均为阴性。患者进展良好,肝皮肤病变消退并最终消失。讨论至今还没有解释为什么相同的血管病变在不同的病人身上表现不同。新的突变可能是造成这种情况的原因。
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来源期刊
CiteScore
1.40
自引率
0.00%
发文量
64
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