Literature DB >> 25698387

Combined and complex vascular malformations.

Robert K Clemens1, Thomas Pfammatter2, Thomas O Meier1, Ahmad I Alomari3, Beatrice R Amann-Vesti1.   

Abstract

The correct diagnosis of vascular malformations is obtainable by clinical assessment and patient history in the majority of cases. Nonetheless, confusion in nomenclature, existence of multiple classifications and rarity of these lesions leads to misdiagnosis and related wrong treatment. This is especially the case in combined or complex vascular malformations or vascular malformations that are part of syndromes as these have overlapping clinical and imaging features. New entities in the field of vascular anomalies have been described recently like fibro-adipose vascular anomaly or central conducting lymphatic anomalies.

Entities:  

Keywords:  Vascular malformation; central conducting lymphatic anomalies; combined vascular malformation; complex vascular malformation fibro-adipose vascular anomaly

Mesh:

Year:  2015        PMID: 25698387     DOI: 10.1024/0301-1526/a000414

Source DB:  PubMed          Journal:  Vasa        ISSN: 0301-1526            Impact factor:   1.961


  7 in total

Review 1.  Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.

Authors:  Craig M Johnson; Oscar M Navarro
Journal:  Pediatr Radiol       Date:  2017-08-04

Review 2.  The Lymphatic Circulation in Adaptations to the Fontan Circulation.

Authors:  Sabarinath Menon; Murthy Chennapragada; Shinya Ugaki; Gary F Sholler; Julian Ayer; David S Winlaw
Journal:  Pediatr Cardiol       Date:  2017-02-16       Impact factor: 1.655

3.  ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Authors:  Dong Li; Michael E March; Alvaro Gutierrez-Uzquiza; Charlly Kao; Christoph Seiler; Erin Pinto; Leticia S Matsuoka; Mark R Battig; Elizabeth J Bhoj; Tara L Wenger; Lifeng Tian; Nora Robinson; Tiancheng Wang; Yichuan Liu; Brant M Weinstein; Matthew Swift; Hyun Min Jung; Courtney N Kaminski; Rosetta Chiavacci; Jonathan A Perkins; Michael A Levine; Patrick M A Sleiman; Patricia J Hicks; Janet T Strausbaugh; Jean B Belasco; Yoav Dori; Hakon Hakonarson
Journal:  Nat Med       Date:  2019-07-01       Impact factor: 53.440

4.  Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

Authors:  Mandi Liu; Christopher L Smith; David M Biko; Dong Li; Erin Pinto; Nora O'Connor; Cara Skraban; Elaine H Zackai; Hakon Hakonarson; Yoav Dori; Sarah E Sheppard
Journal:  Eur J Hum Genet       Date:  2022-05-24       Impact factor: 5.351

5.  Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

Authors:  Dong Li; Tara L Wenger; Christoph Seiler; Michael E March; Alvaro Gutierrez-Uzquiza; Charlly Kao; Elizabeth Bhoj; Lifeng Tian; Misha Rosenbach; Yichuan Liu; Nora Robinson; Mechenzie Behr; Rosetta Chiavacci; Cuiping Hou; Tiancheng Wang; Marina Bakay; Renata Pellegrino da Silva; Jonathan A Perkins; Patrick Sleiman; Michael A Levine; Patricia J Hicks; Maxim Itkin; Yoav Dori; Hakon Hakonarson
Journal:  Hum Mol Genet       Date:  2018-09-15       Impact factor: 6.150

6.  Hybrid treatment of fibroadipose vascular anomaly: A case report.

Authors:  Francesco Stillo; Federica Ruggiero; Antonio De Fiores; Rita Compagna; Bruno Amato
Journal:  Open Med (Wars)       Date:  2020-09-11

7.  Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition.

Authors:  Kristiana Gordon; Matthew Moore; Malou Van Zanten; Julian Pearce; Maxim Itkin; Brendan Madden; Lakshmi Ratnam; Peter S Mortimer; Rani Nagaraja; Sahar Mansour
Journal:  Front Genet       Date:  2022-09-27       Impact factor: 4.772

  7 in total

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