Klippel-Trenaunay syndrome: a review

Area of Science:

• Medical Genetics and Developmental Biology
• Vascular Malformations and Syndromes

Background:

• Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterized by a triad of vascular nevus, varicose veins, and bony/soft-tissue hypertrophy.
• Initial presentation can be subtle, appearing as a skin blemish or varicose veins, potentially leading to diagnostic delays.
• Distinguishing KTS from similar conditions, such as Parkes-Weber syndrome, is crucial for appropriate clinical management.

Purpose of the Study:

• To outline the clinical presentation, diagnostic investigations, and management strategies for Klippel-Trenaunay syndrome.
• To present four illustrative cases of Klippel-Trenaunay syndrome encountered by the authors.
• To highlight the challenges in managing KTS, particularly when presenting as Parkes-Weber syndrome with significant arteriovenous shunting.

Main Methods:

• Review of clinical literature on Klippel-Trenaunay syndrome.
• Case series presentation of four patients with Klippel-Trenaunay syndrome.
• Discussion of diagnostic modalities and therapeutic approaches.

Main Results:

• The study details the characteristic triad of KTS and emphasizes the importance of early recognition.
• Four cases demonstrate the varied presentations and management considerations for KTS.
• Parkes-Weber syndrome, a severe variant of KTS with arteriovenous shunting, presents significant surgical challenges.

Conclusions:

• Accurate diagnosis of Klippel-Trenaunay syndrome is essential to prevent management errors.
• Long-term follow-up data for KTS is limited, leaving many questions regarding prognosis and optimal long-term care.
• Further research is needed to establish evidence-based guidelines for the prognosis and management of Klippel-Trenaunay syndrome.