青春期起病的全身性脂肪萎缩病二例及其分子病因分析
被引量:3
摘要
例1患者女,17岁。早产1个月,出生后外貌正常,自12岁起出现消瘦、全身皮肤色素沉着,以颈部、腋窝、腹股沟为承,面部、四肢、躯干、臀部、掌心、足底皮下脂肪缺失。家族中无类似疾病及自身免疫性疾病,同胞姐姐无类似表现.体检:体形消瘦,眼球稍突出,鸟嘴样鼻子,牙列不齐,粗测听力下降。乳房萎缩,腹部稍膨隆,四肢肌肉萎缩,关节僵硬,双下肢汗毛增多,轻度凹陷性水肿,无阴毛、腋毛。
出处
《中华内科杂志》
CAS
CSCD
北大核心
2013年第8期679-680,共2页
Chinese Journal of Internal Medicine
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