Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update

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, r...

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Bibliographic Details
Published in:Dermatopathology (Basel, Switzerland) Switzerland), 2021-12, Vol.8 (4), p.477-493
Main Authors: Colmenero, Isabel, Knöpfel, Nicole
Format: Article
Language:English
Subjects:
Genetics
Histopathology
Kinases
Mutation
Pathogenesis
Review
somatic and germline mutations
targeted therapy
vascular anomalies
venous malformations
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Summary: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.
ISSN:2296-3529
2296-3529
DOI:10.3390/dermatopathology8040050