儿童一例与泰克相关的畸形和类马氏体质:偶然发现还是特征?

IF 0.7 4区医学 Q4 IMMUNOLOGY

Lymphology Pub Date : 2022-01-01

P S Buonuomo, M El Hachem, G Mastrogiorgio, E Pisaneschi, A Diociaiuti, I Rana, M Macchiaiolo, R Capolino, M V Gonfiantini, D Vecchio, A Novelli, A Bartuli

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引用次数: 0

摘要

血管畸形包括范围广泛的复杂血管病变。由于临床表现的极端可变性，分类及其相关综合征提出了一个挑战。在这里，我们描述了一个病例的男孩表现为马凡样体质，皮肤血管畸形，和严重的急性贫血，由于回肠静脉畸形。虽然马凡氏表型的一组遗传标记为阴性，但我们在患者的TEK基因中发现了一个新生突变。本病例支持扩展tek相关血管畸形的表型谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

本刊更多论文

A pediatric case of TEK-Related malformations and marfanoid habitus: an incidental finding or a feature?

Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their related syndromes presents a challenge. Here we describe a case of a boy presenting with Marfanoid habitus, cutaneous vascular malformations, and severe acute anemia due to ileal venous malformations. Although a panel of genetic markers for the Marfan phenotype was negative, we identified a de novo mutation in the TEK gene in the patient. This case supports expansion of the phenotypic spectrum of TEK-related vascular malformations.

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来源期刊

Lymphology 医学-免疫学

CiteScore

5.20

自引率

8.00%

发文量

审稿时长

3 months

期刊介绍： The Journal contains original articles, special features (see below), and information regarding the International Society of Lymphology. It seeks original papers dealing with clinical and basic studies of the lymphatic system and its disorders including related fields. Articles are accepted for external review and publication on the condition that they are contributed to Lymphology only and that no substantial part has been or will be published elsewhere.