AI Article Synopsis

  • * A case study of a 12-year-old girl with KTS is discussed, highlighting her experience of recurrent profuse vaginal bleeding, alongside a review of 7 similar cases in older individuals who experienced uncontrollable bleeding and anemia.
  • * Endovascular procedures were the main treatment approach for KTS cases with genital issues, while recent studies point to a link between KTS and the PIK3CA gene mutation, suggesting potential pharmacological treatment options.

Article Abstract

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by wine stains, abnormal tissue and bone growth, and vascular malformations. Genital involvement is uncommon. We report a case of a 12-year-old female with KTS who experienced recurrent profuse vaginal bleeding and provide a comprehensive literature review on KTS cases with genital involvement. The literature reports 7 cases, mainly in individuals aged 25 to 45, presenting with uncontrollable vaginal bleeding and anemia. Endovascular interventions were the primary treatment, although surgery was necessary in some cases. Recent studies have identified a potential association between KTS and the PIK3CA gene mutation, offering insights for pharmacological treatment.

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