1. Síndrome de Klippel-Trénaunay, una afección infrecuente.
- Author
-
García Hernández, Alan, Ramos López, Elizabeth Citlalli, Morales Frausto, Gabriela del Pilar, Guadalupe Serrano, Gloria, and Arenas Guzmán, Roberto
- Abstract
BACKGROUND: Klippel-Trenaunay syndrome is an embryonic developmental defect of mesodermal tissues that affects angiogenesis at various stages, characterized by the triad of capillary malformation, venous malformation, and limb overgrowth with or without lymphatic malformation. It appears very infrequently in adulthood. An incidence of 2-5 per 100,000 inhabitants has been described, with a predominance in males. Mosaic activating mutations in the PIK3CA gene are suggested in studies in embryonic development involving angiogenesis. CLINICAL CASE: A 23-year-old female patient who began her condition from birth with a "red spot" that covered thigh to the left leg sole. Two years ago, she began with a progressive increase in volume, accompanied by hyperthermia and hyperesthesia that have made her unable to walk, as well as the appearance of varicose veins at the ankle level. Doppler ultrasound evidenced perforating veins with data of incompetence at the level of 10 cm from the knee and 38 cm from the ankle and left saphenous-femoral reflux. CONCLUSIONS: Klippel-Trenaunay syndrome is a rare complex congenital entity whose incidence and prevalence are unknown, which may go unnoticed by the physician. We must consider future complications such as coagulation disorders, thromboembolism, bleeding, venous insufficiency, cellulitis, and pain. A multidisciplinary approach is needed to treatment, ideally in a multidisciplinary vascular anomaly center. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF