A 19-year-old man presents with a massively enlarged left lower limb present since childhood. Examination shows limb overgrowth, extensive lateral varicose veins, and a port-wine stain on the lateral thigh. Deep veins are confirmed patent on imaging. What is the diagnosis?

• A Klippel-Trenaunay syndrome ✓
• B Milroy disease
• C Parkes Weber syndrome
• D Neurofibromatosis type 1

Explanation

The triad of limb hypertrophy, cutaneous capillary malformation (port-wine stain), and varicose veins, typically with a persistent embryonic lateral marginal vein, defines Klippel-Trenaunay syndrome. Milroy disease is congenital hereditary lymphoedema limited to the feet and legs without overgrowth or capillary naevi. Parkes Weber syndrome shares the triad but adds arteriovenous fistulas with audible bruits and limb warmth, which are absent here, making it the key distractor killed by the absence of high-flow shunting.

Reference: Bailey and Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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