This dysregulation particularly affects the brain and skin, causing epilepsy, neurodevelopmental issues and hypopigmentation, and is linked to elevated vascular endothelial growth factor-D (VEGF-D) levels in conditions like lymphangioleiomyomatosis (LAM) and angiomyolipomas (AMLs) [27,28,29]. The gene discussed is VEGFD; the disease is lymphangioleiomyomatosis.