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本病又名:Siemen氏脱毛性刺状毛囊角化,为遗传性外胚叶发育不良疾病。何×女15岁满族住院号:2677521983年12月30日入院。出生后无毛发,畏光,眼球震颤,仅能看见眼前较大的物体,继之皮肤粗糙、干燥、很少出汗。近五年来视力进一步减退,至今仅存光感;全身皮肤反复起污秽暗色厚痂皮。双手、足、趾甲变形。口腔粘膜红肿、疼痛,冬轻夏重。患者与同龄人相比智力低下。患者为第一胎,足月顺产,父母非血族联姻,同胞三人均无相同疾患。父母二系追溯二代无类似疾患。体格检查:体重50kg,身长150cm,全
The disease also known as: Siemen’s hair removal thorn hair follicle keratosis, hereditary ectodermal dysplasia. He × female 15-year-old Manchu hospital number: 2677521983 on December 30 admission. No hair after birth, photophobia, nystagmus, can only see the larger objects in the immediate area, followed by rough skin, dry, little sweating. In the past five years, visual acuity further diminished, so far the only sense of light; whole body skin repeatedly foul dark thick crust. Hands, feet, toenails deformation. Oral mucosal swelling, pain, summer light summer. Patients with mental retardation compared with their peers. Patients for the first child, full-term follow-up, parents non-blood marriage, fellow three no common diseases. Second-generation parent-child secondary tracing no similar diseases. Physical examination: weight 50kg, length 150cm, all