论文部分内容阅读
病例报告先证者(Ⅳ_5),女,8岁,出生后因全身无毛(头发、眉毛、睫毛、毳毛等全部缺如),出汗正常就诊。指(趾)甲发育迟缓,变厚、变短、质脆、有条纹而无光泽,甲床及甲游离缘下的皮肤增厚,并有甲沟感染。掌跖及其两侧有明显的(氵弥)漫性角化过度,边缘分离,但未见脱屑。指关节、腕关节、膝及肘部皮肤增厚。其余部位未见异常。皮肤纹理明显。牙齿生长发育、一般体格发育、智力发育及整个面容均未见异常。
Case report proband (Ⅳ_5), female, 8 years old, due to body hair after birth (hair, eyebrows, eyelashes, hair and other lack of all), sweating normal treatment. Finger (toe) growth retardation, thickening, shortening, crisp, streaky and dull, nail bed and a free edge of the skin thickened, and a sulcus infection. Palmoplantar and its both sides have obvious (Mi Mi) diffuse hyperkeratosis, edge separation, but no scaling. Knuckles, wrists, thickening of the knees and elbows. The rest of the site without exception. Skin texture is obvious. Teeth growth and development, the general physical development, mental development and the entire face were no exception.