Congenital vascular malformations can manifest in various forms, ranging from simple conditions like capillary malformation (CM), venous malformation (VM), arteriovenous malformation (AVM), and lymphatic malformation (LM), to mixed forms such as capillary-lymphatic malformation (CLM), lymphatic-venous malformation (LVM), and capillary-lymphatic-venous malformation (CLVM), among others. These malformations can also present with complicated manifestations, including combinations such as CM + VM +/- LM + limb overgrowth in Klippel-Trenaunay syndrome, CM + AVF + limb overgrowth in Parkes Weber syndrome, among others. Additionally, PIK3CA-related overgrowth syndrome (PROS) groups lesions with heterogeneous segmental overgrowth phenotypes, with or without vascular anomalies, due to somatic PIK3CA activating mutations is more complex. While isolated vascular malformations generally have limited effects on health, syndromic vascular malformations can cause severe dysfunction and even be life-threatening. Considering the intricate manifestations of vascular malformations, it is essential to deepen our understanding, engage in discussions, and establish consensus regarding their clinical phenotypes, pathogenesis, disease genes, and treatment options.
This Research Topic aims to explore the intricate manifestations, pathogenesis, disease genes, and treatments associated with vascular malformations and related syndromes. This topic will delve into advancements in these areas, address unresolved issues, comprehensively analyze the existing literature, and strive to establish consensus among clinicians and researchers for reference.
We welcome submissions about complex vascular malformations, including venous malformations, arteriovenous malformations, capillary malformations, lymphatic malformations, mixed vascular malformations, and related syndromes such as Klippel-Trenaunay syndrome, Parkes Weber syndrome, Sturge-Weber syndrome, Maffucci syndrome, CLAPO syndrome, Cloves syndrome, and the more complex PIK3CA-related overgrowth syndrome. These topics will be given higher priority:
- In-depth studies of common vascular malformations, encompassing rare clinical phenotypes, novel findings in pathogenesis, and innovative therapies.
- Clinical and basic research on rare vascular malformations and related syndromes, including investigations into clinical phenotypes, pathogenesis, and disease genes.
- Novel treatments for complex vascular malformation-related syndromes, such as targeted therapies targeting genetic mutations and abnormal signaling pathways, or comprehensive treatments based on new materials and drugs.
- Comparative studies of complex vascular malformations and related syndromes across different countries and ethnicities, including new discoveries in clinical phenotypes, disease genes, and variations in treatment response.
Congenital vascular malformations can manifest in various forms, ranging from simple conditions like capillary malformation (CM), venous malformation (VM), arteriovenous malformation (AVM), and lymphatic malformation (LM), to mixed forms such as capillary-lymphatic malformation (CLM), lymphatic-venous malformation (LVM), and capillary-lymphatic-venous malformation (CLVM), among others. These malformations can also present with complicated manifestations, including combinations such as CM + VM +/- LM + limb overgrowth in Klippel-Trenaunay syndrome, CM + AVF + limb overgrowth in Parkes Weber syndrome, among others. Additionally, PIK3CA-related overgrowth syndrome (PROS) groups lesions with heterogeneous segmental overgrowth phenotypes, with or without vascular anomalies, due to somatic PIK3CA activating mutations is more complex. While isolated vascular malformations generally have limited effects on health, syndromic vascular malformations can cause severe dysfunction and even be life-threatening. Considering the intricate manifestations of vascular malformations, it is essential to deepen our understanding, engage in discussions, and establish consensus regarding their clinical phenotypes, pathogenesis, disease genes, and treatment options.
This Research Topic aims to explore the intricate manifestations, pathogenesis, disease genes, and treatments associated with vascular malformations and related syndromes. This topic will delve into advancements in these areas, address unresolved issues, comprehensively analyze the existing literature, and strive to establish consensus among clinicians and researchers for reference.
We welcome submissions about complex vascular malformations, including venous malformations, arteriovenous malformations, capillary malformations, lymphatic malformations, mixed vascular malformations, and related syndromes such as Klippel-Trenaunay syndrome, Parkes Weber syndrome, Sturge-Weber syndrome, Maffucci syndrome, CLAPO syndrome, Cloves syndrome, and the more complex PIK3CA-related overgrowth syndrome. These topics will be given higher priority:
- In-depth studies of common vascular malformations, encompassing rare clinical phenotypes, novel findings in pathogenesis, and innovative therapies.
- Clinical and basic research on rare vascular malformations and related syndromes, including investigations into clinical phenotypes, pathogenesis, and disease genes.
- Novel treatments for complex vascular malformation-related syndromes, such as targeted therapies targeting genetic mutations and abnormal signaling pathways, or comprehensive treatments based on new materials and drugs.
- Comparative studies of complex vascular malformations and related syndromes across different countries and ethnicities, including new discoveries in clinical phenotypes, disease genes, and variations in treatment response.