Parkes-Weber综合征的淋巴畸形:血管异常中心16例病例的回顾性分析。

IF 1.5 3区 医学 Q2 PEDIATRICS
European Journal of Pediatric Surgery Pub Date : 2024-02-01 Epub Date: 2023-08-18 DOI:10.1055/a-2156-5000
Julio César Moreno Alfonso, Irune Méndez-Maestro, Aniol Coll I Prat, Lara Rodríguez-Laguna, Victor Martínez-Glez, Paloma Triana, Juan Carlos López-Gutiérrez
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引用次数: 0

摘要

简介: 帕克斯-韦伯综合征(PWS)是一种罕见的遗传性疾病,其特征是过度生长和血管畸形,主要影响四肢。虽然PWS已知与动静脉和毛细血管畸形有关,但淋巴管畸形(LMs)的潜在参与此前尚未报道。本研究的目的是研究PWS患者淋巴异常的存在及其在肢体不对称发展中的作用。材料和方法: 这是对1994年至2020年在血管异常中心诊断为PWS的患者的回顾性研究。临床数据来自医疗记录,包括诊断成像、淋巴闪烁扫描和基因检测。机构审查委员会和道德委员会已经批准了这项研究。结果: 共有16名患者被纳入研究,年龄为18岁,四分位间距14.7岁,诊断为PWS(50%为女性)。16名PWS患者中有6名患者的临床和影像学数据提示LM(37.5%),其中3名患者的RASA1(2/3)或KRAS(1/3)存在遗传变异。孤立性PWS患者的肢体不对称性更大(2.6 ± 0.8 cm)比PWS淋巴异常人群(2 ± 0.7 cm),尽管不显著(p = 0.247)。每6例PWS-LM患者中就有1例需要截肢(16.6%),而孤立性PWS患者中每10例中就有一例需要截肢。结论: 淋巴异常可能存在于大量PWS患者中,并可能在肢体不对称和预后中发挥作用。调查它们的存在并将其与真正的过度生长区分开来是至关重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center.

Introduction:  Parkes Weber's syndrome (PWS) is a rare genetic disorder characterized by overgrowth and vascular malformations, primarily affecting the extremities. While PWS is known to be associated with arteriovenous and capillary malformations, the potential involvement of lymphatic malformations (LMs) has not been previously reported. The objective of this study is to investigate the presence of lymphatic anomalies in PWS patients and their role in the development of limb asymmetry.

Materials and methods:  This is a retrospective study of patients diagnosed with PWS in a Vascular Anomalies Center from 1994 to 2020. Clinical data were obtained from medical records including diagnostic imaging, lymphoscintigraphy, and genetic testing. The Institutional Review Board and Ethics Committee have approved this study.

Results:  A total of 16 patients aged 18 interquartile range 14.7 years diagnosed with PWS were included (50% female). Six of the 16 patients with PWS had clinical and imaging data suggestive of LM (37.5%) and 3 of them had genetic variants in RASA1 (2/3) or KRAS (1/3). Limb asymmetry was greater in patients with isolated PWS (2.6 ± 0.8 cm) than in the PWS-lymphatic anomalies population (2 ± 0.7 cm), although not significant (p = 0.247). One in 6 patients with PWS-LM required amputation (16.6%) versus 1 in 10 in isolated PWS (10%).

Conclusion:  Lymphatic anomalies may be present in a significant number of patients with PWS and could have a role in limb asymmetry and outcomes. It is paramount to investigate their existence and distinguish them from true overgrowth.

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来源期刊
CiteScore
3.90
自引率
5.60%
发文量
66
审稿时长
6-12 weeks
期刊介绍: This broad-based international journal updates you on vital developments in pediatric surgery through original articles, abstracts of the literature, and meeting announcements. You will find state-of-the-art information on: abdominal and thoracic surgery neurosurgery urology gynecology oncology orthopaedics traumatology anesthesiology child pathology embryology morphology Written by surgeons, physicians, anesthesiologists, radiologists, and others involved in the surgical care of neonates, infants, and children, the EJPS is an indispensable resource for all specialists.
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