Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update

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Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update

Colmenero, Isabel; Knöpfel, Nicole; (2021) Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update. Dermatopathology , 8 (4) pp. 477-493. 10.3390/dermatopathology8040050. Green open access

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Abstract

Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed.

Type:	Article
Title:	Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update
Location:	Switzerland
Open access status:	An open access version is available from UCL Discovery
DOI:	10.3390/dermatopathology8040050
Publisher version:	https://doi.org/10.3390/dermatopathology8040050
Language:	English
Additional information:	This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords:	Genetics, histopathology, somatic and germline mutations, targeted therapy, vascular anomalies, venous malformations
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI:	https://discovery.ucl.ac.uk/id/eprint/10165667