Overgrowth syndromes with vascular malformations.
This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases.
University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Solveig L
SL
Hagen
Departments of Dermatology and Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA. hans1635@umn.edu.
Kristen P
KP
Hook
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000628:therapy*; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000628:therapy; D058534:Class I Phosphatidylinositol 3-Kinases; D006801:Humans; D009154:Mutation; D009383:Neoplasms, Vascular Tissue / Q000175:diagnosis / Q000628:therapy; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D016715:Proteus Syndrome / Q000175:diagnosis / Q000628:therapy; D012878:Skin Neoplasms / Q000175:diagnosis / Q000628:therapy; D013577:Syndrome; D014652:Vascular Diseases / Q000175:diagnosis* / Q000628:therapy*; D054079:Vascular Malformations / Q000175:diagnosis* / Q000628:therapy*
D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
Beckwith-Wiedemann Syndrome; Klippel-Trenaunay Syndrome; PIK3CA; RASA1; hemihypertrophy; overgrowth; vascular anomaly; vascular malformation