Refractory leg ulcers associated with klinefelter syndrome

Abstract

We present a man with refractory leg ulcers, bilateral varicosis of the lower extremities, and Buerger disease. Autoimmune work-up was negative. However, chromosome analysis showed Klinefelter syndrome (48 XXY). Ulcerative lesions of the lower extremities are a complication of Klinefelter syndrome. To date, the pathogenesis of ulcers in Klinefelter syndrome has not been clarified, but several factors, such as abnormalities of fibrinolysis and prothrombotic states, might be involved. Our present case emphasizes the importance of considering Klinefelter syndrome in the differential diagnosis of a male patient with nonhealing ulcers of the lower extremities.