Klippel-Trenaunay-Weber syndrome associated with tuberous sclerosis, aortitis syndrome, and desmoid tumor

A 10-year-old boy had congenital hypertrophy of his right lower extremity. When he was 1 year old, the hypertrophic skin and subcutaneous tissue were resected and histopathologically diagnosed as cavernous lymphangioma. After that, the operation scar intermittently ulcerated. He was referred to our hospital for right lower extremity hypertrophy and two ulcers (17x10 cm), (20x10 cm), which had become larger in spite of various treatments. Several additional abnormal conditions were found; epilepsy, calcification in the cerebral ventricle, a subcutaneous elastic hard tumor in the right abdomen, (which was histopathologically identified as a desmoid tumor), and soft, elevated skin lesions in the lumbo-sacral region (shagreen patch). Angiographical examination detected stenosis in the right external iliac artery, and an aneurysm just above the aortic bifurcation. From these symptoms, we diagnosed the patient as described in the title. Klippel and Trenaunay first reported KTWS in 1900 as the association of varicose veins, soft tissue and bone hypertrophy, and capillary angiomas within one extremity. Troost et al reported a case of association with tuberous sclerosis and desmoid tumor, but the association with aortitis syndrome had not been found previously. We found the KTWS lesion as well as aortitis syndrome and desmoid tumor on the same side of the body. However, the relation of these diseases, including tuberous sclerosis, remains unclear. When a case of KTWS is encountered, therefore, examination of the whole body, especially with angiography, is considered necessary, because of the possibility of various associative diseases as described here.