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      Síndrome de klippel-trenaunay: A propósito de un caso incipiente Translated title: Klippel-Trenaunay Syndrome: a report of a case of early presentation

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          Abstract

          Se presenta el caso de un lactante con una extensa mancha en vino de Oporto y deformación del miembro pélvico derecho a expensas del tejido blando sin afección ósea compatible con el síndrome de Klippel-Trénaunay; no se observan las alteraciones venosas clásicas por su temprana edad.

          Translated abstract

          We report the case of an infant with a large port-wine stain and right pelvic limb deformation at the expense of soft tissue without bone involvement compatible with Klippel-Trenaunay syndrome, no venous abnormalities was observed, typical for his early age.

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          Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.

          Xiao-Li Tian, Rajkumar Kadaba, Sun-Ah You … (2004)
          Angiogenic factors are critical to the initiation of angiogenesis and maintenance of the vascular network. Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS). One mutation is chromosomal translocation t(5;11), which increases VG5Q transcription. The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. VG5Q protein acts as a potent angiogenic factor in promoting angiogenesis, and suppression of VG5Q expression inhibits vessel formation. E133K is a functional mutation that substantially enhances the angiogenic effect of VG5Q. VG5Q shows strong expression in blood vessels and is secreted as vessel formation is initiated. VG5Q can bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion. We also demonstrate a direct interaction of VG5Q with another secreted angiogenic factor, TWEAK (also known as TNFSF12). These results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for KTS, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS.
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            Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth.

            George Kihiczak, C K Janniger, Martin Schwartz … (2006)
            Klippel-Trenaunay syndrome is characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and soft tissue. Appropriate evaluation and treatment of children displaying features of the disease may minimize morbidity. The clinical appearance, etiology, genetics, diagnostics, and treatment of Klippel-Trenaunay syndrome are herein explored.
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              Klippel–Trenaunay syndrome: current management

              P GLOVICZKI, D. DRISCOLL, D. J. Driscoll … (2007)
              Article 0 comments Cited 6 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Antonio David Pérez-Elizondo: Role: ND
                María Elena Ruíz-Pérez: Role: ND
                Cristina Contreras-Guzmán: Role: ND
                Journal
                Journal ID (publisher): avpp
                Title: Archivos Venezolanos de Puericultura y Pediatría
                Abbreviated Title: Arch Venez Puer Ped
                Publisher: Sociedad Venezolana de Puericultura y Pediatría (Caracas )
                ISSN: 0004-0649
                Publication date (Print): June 2013
                Volume: 76
                Issue: 2
                Pages: 68-69
                Affiliations
                [1 ] Hospital para el Niño, IMIEM
                [2 ] Hospital para el Niño, IMIEM
                Article
                Publisher ID: S0004-06492013000200005
                SO-VID: b2ff4b12-992f-42ea-ba68-de18fc8faddd
                License:

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Venezuela

                Self URI (journal page): http://www.scielo.org.ve/scielo.php?script=sci_serial&pid=0004-0649&lng=en
                Categories
                Subject: HEALTH CARE SCIENCES & SERVICES
                Subject: HEALTH POLICY & SERVICES
                Subject: PEDIATRICS

                ScienceOpen disciplines: Pediatrics,Health & Social care,Public health
                Keywords: Klippel-Trenaunay síndrome,Síndrome de Klippel -Trénaunay,malformación vascular,deformación,vascular malformation,deformation
                Data availability:
                ScienceOpen disciplines: Pediatrics, Health & Social care, Public health
                Keywords: Klippel-Trenaunay síndrome, Síndrome de Klippel -Trénaunay, malformación vascular, deformación, vascular malformation, deformation

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