Klippel Trenaunay Syndrome with Angiokeratoma Circumscriptum Naeviforme and Bilateral Congenital Anorchia: A Rare Association  

作　　者：Mujammel Haque Kalyan Benjamin Gomes Sajib Kumar Talukdhar Mustafizur Rahman Farzana Sharmin Manik Kumar Talukder Mujammel Haque;Kalyan Benjamin Gomes;Sajib Kumar Talukdhar;Mustafizur Rahman;Farzana Sharmin;Manik Kumar Talukder(Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh)

机构地区：[1]Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

出　　处：《Open Journal of Pediatrics》2024年第1期43-49,共7页儿科学期刊（英文）

摘　　要：Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this illness include bleeding, deep vein thrombosis, and embolic consequences. Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity. Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we presented an 8-year-old male child who came with a swollen left thigh and the right side of his face with overlying blackish nodules on his left thigh and scrotum. The patient was diagnosed as KTS with angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based on his history, imaging studies and the typical clinical features of the disease.Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this illness include bleeding, deep vein thrombosis, and embolic consequences. Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity. Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we presented an 8-year-old male child who came with a swollen left thigh and the right side of his face with overlying blackish nodules on his left thigh and scrotum. The patient was diagnosed as KTS with angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based on his history, imaging studies and the typical clinical features of the disease.

关 键 词：Klippel-Trenaunay Syndrome Angiokeratoma Circumscriptum Neviforme Bilateral Congenital Anorchia 

分 类 号：R57[医药卫生—消化系统]