A 16-year-old boy has a large port-wine stain over the left leg, varicose veins on the lateral thigh since childhood, and the left leg is 3 cm longer and 2 cm wider than the right. Duplex shows no arteriovenous fistula. What is the diagnosis?

• A Parkes-Weber syndrome
• B Maffucci syndrome
• C Milroy disease
• D Klippel-Trenaunay syndrome ✓

Explanation

Klippel-Trenaunay syndrome is a congenital capillary-lymphatic-venous malformation defined by the triad of capillary malformation (port-wine stain), varicose veins, and bony or soft tissue hypertrophy of the affected limb, without arteriovenous fistulae. The presence of high-flow arteriovenous fistulae distinguishes Parkes-Weber syndrome, the key distractor. Milroy disease is hereditary congenital lymphoedema, and Maffucci syndrome combines enchondromas with haemangiomas.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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