Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review
Piero Pavone,
Lidia Marino,
Giovanni Cacciaguerra,
Alessandra Di Nora,
Enrico Parano,
Giuseppe Musumeci,
Martino Ruggieri,
Agata Polizzi,
Raffaele Falsaperla
Affiliations
Piero Pavone
Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy
Lidia Marino
Pediatrics and Pediatric Emergency Department, University Hospital, A.O.U. “Policlinico-Vittorio Emanuele”, 95100 Catania, Italy
Giovanni Cacciaguerra
Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy
Alessandra Di Nora
Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy
Enrico Parano
National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, 95100 Catania, Italy
Giuseppe Musumeci
Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, 95100 Catania, Italy
Martino Ruggieri
Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy
Agata Polizzi
Department of Educational Science, University of Catania, 95100 Catania, Italy
Raffaele Falsaperla
Pediatrics and Pediatric Emergency Department, University Hospital, A.O.U. “Policlinico-Vittorio Emanuele”, 95100 Catania, Italy
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.
