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What is 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: and explain in detail?
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