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      Klipper Trenaunay Weber. A propósito de un caso Translated title: Klipper Trenaunay Weber. A propos of a case

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          Abstract

          Se presentan las características clínicas de un paciente que se concluyó como portador de síndrome Klippel-Trenaunay Weber, quien ingresó en el Hospital Provincial Clínico Quirúrgico Docente José Ramón López Tabrane, de Matanzas, por un hematoma intraparenquimatoso. Este se incluye dentro de los síndromes neurocutáneos con afección vascular. Es de presentación poco frecuente (1/27 500 recién nacidos) y no bien conocido. Posee 3 características fundamentales que lo distinguen: angioma o nevus flammeus, hipertrofia asimétrica de tejidos blandos y várices. En nuestro paciente se observan dichas alteraciones, asociadas a otras anomalías ocasionales.

          Translated abstract

          We present the clinical characteristics of a patient who was concluded as a carrier of the Klippel-Trenaunay Weber syndrome, who entered the Provincial Hospital of Matanzas José Ramón López Tabranes, with an intraparenchimatous hematoma. It is included among the neurocutaneous syndromes with vascular condition. It is a rare condition (1/27 500 newborns) and it is not well-known. It has three main distinguishing characteristics: angioma or nevus flammeus, asymmetric hypertrophy of soft tissues and varices. Those alterations are observed in our patient, associated to other occasional anomalies.

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          Most cited references22

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

          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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            Vascular malformations. Part II: associated syndromes.

            Cutaneous vascular malformations are rare disorders representing errors in vascular development. These lesions occur much less commonly but are often confused with the common infantile hemangioma. It is important to properly diagnose vascular malformations because of their distinct differences in morbidity, prognosis and treatment. Vascular malformations may be associated with underlying disease or systemic anomalies. Several of these syndromes are well defined and can often be distinguished on the basis of the flow characteristics of the associated vascular malformation. At the completion of this learning activity, participants should be able to better recognize underlying diseases or systemic anomalies that may be associated with vascular malformations. Participants should also better understand the various syndromes and conditions discussed and become more familiar with their management.
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              Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review.

              Klippel-Trenaunay syndrome (KTS) is a rare disorder that consists of a triad of capillary vascular malformation, venous malformations and/or varicose veins, and soft tissue and/or bony hypertrophy. Pain is a real and debilitating problem in these patients. We have observed 9 common causes of pain in KTS: (1) chronic venous insufficiency, (2) cellulitis, (3) superficial thrombophlebitis, (4) deep vein thrombosis, (5) calcification of vascular malformations, (6) growing pains, (7) intraosseous vascular malformation, (8) arthritis, and (9) neuropathic pain. The management of pain in patients with KTS depends on its cause. These patients are best evaluated initially in a center with an experienced multidisciplinary team that includes a primary health care provider, surgeons, and ancillary staff. The ongoing care of a patient with KTS often depends on a local provider who is more readily accessible to the patient but may not have the expertise of a large center to manage the complications of KTS. The purpose of this communication is to review the common causes of pain in these patients to provide local health care providers and patients and their families with appropriate management strategies.
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                Author and article information

                Contributors
                Role: ND
                Journal
                rme
                Revista Médica Electrónica
                Rev.Med.Electrón.
                CENTRO PROVINCIAL DE INFORMACIÓN DE CIENCIAS MÉDICAS. MATANZAS (Matanzas )
                1684-1824
                June 2011
                : 33
                : 3
                : 360-368
                Affiliations
                [1 ] Hospital Provincial Clínico Quirúrgico Docente José R. López Tabrane Cuba
                Article
                S1684-18242011000300013
                dd315553-0e3e-4d71-b4c5-af15a2806f11

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

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