Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review
Piero Pavone1,2, Lidia Marino3, Giovanni Cacciaguerra1
1Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy.
Abstract:
Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.
More Related Videos
06:53A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies
Published on: July 4, 2017
10:23Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Related Concept Videos
Abnormal Proliferation
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Obsessive-Compulsive Disorder
Bulimia Nervosa
Cushing Syndrome II: Pathophysiology
Increased Intracranial Pressure l: Introduction
