Thelansis

  Vascular malformations (VMs) are congenital abnormalities arising from errors in vascular development, leading to the formation of vessels with abnormal morphology. They are categorized into two groups: slow-flow and fast-flow malformations, based on the presence or absence of arterial involvement, respectively. While most VMs are evident at birth, some may develop postnatally. Approximately 5% of congenital VMs are attributed to inherited loss-of-function (LOF) germline mutations with a secondary somatic mutation. The remaining 95% are sporadic, arising from gain-of-function (GOF) mutations occurring post-conception in clusters of non-gametal cells. These mutations primarily affect two major cellular signaling pathways: the PI3KCA-AKT-mTOR and the RAS-RAF-MEK-ERK pathways, which regulate angiogenesis, cell growth, proliferation, motility, and apoptosis. Doppler ultrasound (US) and magnetic resonance imaging (MRI) are essential imaging modalities utilized for the characterizati...