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Klippel-trenaunay syndrome in a child with coexisting lymphangioma, vascular insufficiency, and multiple soft tissue swellings: a case report

Year: 2025

Type: article

Abstract: Introduction: Klippel-Trenaunay syndrome (KTS) is a complex and extremely rare congenital vascular syndrome. The disorder presents with a vascular malformation syndrome involving cutaneous capillaries and venous (hemangiomas and port-wine stains). Lymphatic anomalous development, with hyperplasia of soft tissue and bones, can also occur, which is due to overgrowth occurring as a result of somatic mutations. Case Presentation: We present a 12-year-old male child with a 12-year history of subcutaneous growths, initially painless. KTS was diagnosed in childhood and associated with a vascular malformation of the right thigh, leg, and foot, associated with hypertrophy in the ipsilateral lower leg. Further, the patient had the presence of extensive lymphangioma in the right leg, which co-existed with the vascular malformation. The patient was treated with a multi-disciplinary approach. Discussion: KTS is a congenital disorder characterized by varicose veins, capillary malformations, and tissue hypertrophy. It may show GI bleeding, orthopedic problems, and possible complications such as splenic hemangiomas. The disorder can be managed using NSAIDs, embolization, sclerotherapy, and surgery for severe cases. Genetic testing and imaging, including MRI, are important in diagnosis and management planning. Conclusion: In conclusion, KTS is a challenging disease due to its rarity, diagnostic complexity, and varied clinical manifestations. It can be presented with different manifestations and complications, hence makes it very difficult for clinicians to diagnose. For the growing awareness, new research can enhance the knowledge of the clinician about the disease and provide better care for the individuals afflicted by KTS.

Source: Oxford Medical Case Reports

DOI: 10.1093/omcr/omaf286