Significance: In Klippel-Trenaunay syndrome (KTS), management of a wound in the affected limb can be difficult because of the underlying vascular malformations present. This review describes the characteristics of KTS with wound complications in light of the genetic and molecular mechanisms of the disease. Recent Advances: KTS is a slow-flow combined vascular malformation characterized by the triad of capillary malformation, venous malformation with or without lymphatic malformation, and limb overgrowth. KTS is encompassed within the phosphatidylinositol-4,5-bisphosphate3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS), having recently been linked to activating mutations in the PIK3CA gene. This clearly has implications for both molecular diagnosis and potential treatment strategies for the disease. Critical Issues: KTS should be distinguished from Parkes Weber syndrome, a fast-flow-type combined vascular malformation with limb overgrowth. Individualized management is needed for KTS and should be focused on the treatment of symptoms. Future Directions: Targeted therapies that inhibit the phosphoinositide 3-kinase signaling pathway are a potential treatment option for PROS.
Keywords: Klippel–Trenaunay–Weber syndrome; contracture; ulcer; vascular malformations; wound healing; wounds and injuries.
Copyright 2019, Mary Ann Liebert, Inc., publishers.