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例1:男,6岁。因牙齿发育不良就诊,患儿系G_3P_4,足月顺产,生后全身无毳毛、眉毛及头发,不出汗,皮肤干躁。夏秋季节患儿喜泡在冷水盆中,同时吃冰块方感全身舒适,夜间就寝时总睡在水泥地板上或昼夜电扇吹身,冬天身穿单衣便可过冬。智力发育正常。其母及外祖父夏日出汗较少,胞兄生后症状如其弟且较重,经常抽风,6个月时死亡。查体:患儿发育差,面如老人,皮肤粘膜干燥,头发稀疏、无光泽,无眉毛,乳牙4个,牙釉质缺少且粗糙。生理反射存在,病理反射未引出。皮肤活检:表皮角化过度,真皮内缺乏皮肤附件,染色体:46,XY。
Example 1: Male, 6 years old. Due to dental dysplasia treatment, pediatric Department G_3P_4, full-term natural delivery, after birth, body hairless, eyebrows and hair, no sweating, dry skin. Summer and autumn children like to bubble in the cold water basin, while eating ice cube sense of comfort, bedtime sleep at night on the concrete floor or day and night fans blowing in the winter wearing a single garment can be winter. Normal mental development. Its mother and grandfather sweat less in summer, after his brother’s cell symptoms such as his brother and heavier, regular ventilation, died at 6 months. Physical examination: children with poor development, face, such as the elderly, dry skin and mucous membranes, hair sparse, dull, no eyebrows, deciduous teeth 4, lack of enamel and rough. Physiological reflex exists, the pathological reflex did not lead. Skin Biopsy: Exfoliation of the epidermis, lack of skin appendages in the dermis, chromosomes: 46, XY.