Hidano A, Nakajima S, Shimizu T, Kimata Z
Ann Dermatol Venereol. 1979 May;106(5):503-5.
We described a 26-year-old man whose brother has a mottled fundus. Many maternal relatives suffer from myopia and heart disease, and one cousin has arachnodactylia. The patient is very tall and shows various abnormalities such as arachnodactylia, highly arched palate, funnel chest and scoliosis. He also shows hyperextensibility of joints, inguinal hernia, dissecting aneurysm of ascending aorta, dilatation of aortic ring, aortic and mitral insufficiency, myopia and striae distensae. These findings are that of Marfan's syndrome. At the same time, we noticed yellowish papules on the neck, axillae, inguinal region and inner aspect of thighs. Brown patches were found around umbilicus. These skin lesions as well as angioid streaks of fundus are typical for pseudoxanthoma elasticum. This case should be an association by chance of these two genetic affections.
我们描述了一名26岁男性，其兄弟有斑驳的眼底。许多母系亲属患有近视和心脏病，一名堂兄弟患有蜘蛛指。该患者身材非常高大，表现出各种异常，如蜘蛛指、高拱腭、漏斗胸和脊柱侧弯。他还表现出关节过度伸展、腹股沟疝、升主动脉夹层动脉瘤、主动脉环扩张、主动脉和二尖瓣关闭不全、近视和膨胀纹。这些发现符合马方综合征。同时，我们注意到患者颈部、腋窝、腹股沟区和大腿内侧有淡黄色丘疹。脐周发现褐色斑。这些皮肤病变以及眼底的血管样条纹是弹性假黄瘤的典型表现。该病例应为这两种遗传病的偶然关联。
