Klippel-Trénaunay syndrome is characterised by which classical triad?
- A Haemangioma, arteriovenous malformation, and limb hypertrophy
- B Lymphoedema, venous malformation, and hyperpigmentation
- C Port-wine stain, varicose veins, and soft tissue/bone hypertrophy of an extremity ✓
- D Facial naevus flammeus, intracranial haemangioma, and glaucoma
Correct answer: C. Port-wine stain, varicose veins, and soft tissue/bone hypertrophy of an extremity
Explanation
Klippel-Trénaunay syndrome (KTS) is a combined vascular malformation characterised by: (1) capillary malformation (port-wine stain), (2) venous malformation (varicose veins or abnormal lateral embryonic vein — vein of Servelle), and (3) soft tissue and bony hypertrophy of the affected limb. It is caused by PIK3CA somatic mutations. KTS involves a capillary-venous-lymphatic malformation without arteriovenous shunting; Parkes-Weber syndrome adds an arteriovenous component. Sturge-Weber has the facial naevus/intracranial features.
Reference: Bailey & Love's Short Practice of Surgery, 27th ed.
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