Angio-osteohypertrophy syndrome - A case report

We present a rare case of Angio-osteohypertrophy (AOH) syndrome with typical presentation of asymmetrical limb hypertrophy, venous malformations, lymphatic abnormalities and port wine stained macular nevi. This report is of a female newborn baby who was delivered normally. This was a third issue of a non consangunious marriage. On examination, left lower limb of baby was enlarged with many vesicles, non pitting oedema and vulval oedema on left side. Port wine stained macular lesions with bluish pink color noted over entire left leg and buttock. Investigations revealed unilateral bone and soft tissue hypertrophy, abnormal network of capillaries, vascular and lymphatics with abnormal blood flow in blood vessels. Platelet count was normal. Based on clinical features and investigations, baby was diagnosed as a case of AOH syndrome.