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1983年我院遇到兄妹三人均患家族性高胆固醇血症黄色瘤病,现报道如下:例1,男,12岁,维吾尔族,系长子,住院号1421。1983年2月22日住我院五官科。其母诉患儿一岁时双手及腕背侧出现黄色结节状肿物,如黄豆大,无任何不适。随年龄增长,双耳廓上方,四肢关节伸侧及臀部上方亦出现类似肿物,大的如鸡蛋,小的如蚕豆,双耳廓上方肿物使耳廓折叠下垂,要求手术治疗。检查:T36.5℃,P70次/分,R19次/分,血压100/80毫米汞柱,营养中等,浅表淋巴结不大,头颈心肺腹(-),左下肢轻度弯曲,跛行。皮科情况:皮肤弹性及色泽正常,无浮肿。双耳廓上三分之二皮肤明显增厚呈黄色扁平状赘生物,约5×6×1立方厘米大小,致耳廓折叠下垂。双手背侧,四肢关节周围及臀上腰骶部均可见黄色隆起肿块,与皮肤固着在一起。最大如鸭蛋大小,左右对称群聚分布,不红,触之柔韧如橡皮,无挤压疼,边界清
In 1983, our hospital encountered three brothers and sisters each suffering from familial hypercholesterolemia xanthomatosis, are reported as follows: Example 1, male, 12 years old, Uygur, Department of eldest son, hospital number 1421. February 22, 1983 live me Efficacy of the hospital. The mother complained of a year-old child with yellow nodules and hands on the dorsal side of the tumor, such as soybeans, without any discomfort. With age, the top of both ears, limbs and joints lateral extension of the buttocks also appeared above the mass, such as eggs, small, such as broad beans, pinnae above the ears of auricle folds, requiring surgical treatment. Check: T36.5 ℃, P70 beats / min, R19 beats / min, blood pressure 100/80 mm Hg, moderate nutrition, superficial lymph nodes is not large, head and neck heart and lung abdomen (-), left lower limb mild curvature, limp. Pico case: skin elasticity and normal color, no edema. Two-thirds of the ears on both sides of the skin thickening was yellow flat neoplasms, about 5 × 6 × 1 cm in size, resulting in collapse of the pinna drooping. Back of both hands, limbs and joints around the hip and lumbosacral yellow bulge can be seen, and the skin fixed together. Largest, such as the size of a duck, left and right symmetrical cluster distribution, not red, touch the pliable, such as rubber, no squeezing pain, boundary clearance