Yabuno Yuto, Tosa Mamiko, Iwakiri Itaru, Nomoto Shunichi, Kaneko Mayuko, Kuwahara Kousuke, Hyakusoku Hiko, Murakami Masahiro
Department of Plastic and Reconstructive Surgery, Nippon Medical School Musashi Kosugi Hospital.
J Nippon Med Sch. 2015;82(1):64-7. doi: 10.1272/jnms.82.64.
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.
我们报告一名患有难治性腿部溃疡、双侧下肢静脉曲张和血栓闭塞性脉管炎的男性患者。自身免疫检查结果为阴性。然而,染色体分析显示为克兰费尔特综合征(48 XXY)。下肢溃疡性病变是克兰费尔特综合征的一种并发症。迄今为止,克兰费尔特综合征中溃疡的发病机制尚未阐明,但可能涉及纤溶异常和血栓前状态等多种因素。我们目前的病例强调了在鉴别诊断男性下肢不愈合溃疡时考虑克兰费尔特综合征的重要性。