A patient presented with pulsating varicose veins of the lower limb. On examination, he was having cutaneous hemangioma involving the face with enlarged toes. Most probable diagnosis is:
High-Yield Explanation
Pulsating varicose veins + cutaneous hemangioma + enlarged toes - indicates AV Fistula or AV malformation. KLIPPEL- TRENAUNAY SYNDROME Characterized by Congenital AV fistulaQ Cutaneous hemangiomaQ Varicose veinsQ Hyperophy of involved extremityQ Absence of deep venous systemQ KASSABACH- MERRITT SYNDROME ThrombocytopeniaQ Microangiopathic hemolytic anemiaQ Consumptive coagulopathyQ Enlarging vascular lesion (Hemangioma or AV malformationQ) Investigation of choice for evaluation of peripheral AV malformation is MRI