遗传性对称性色素异常症并家系调查

发布时间：2019-05-23 03:00

【摘要】：遗传性对称性色素异常症是一种以对称性散布于双手背、足背雀斑样色素沉着斑及色素减退斑为主要表现的常染色体显性遗传病。本次报道3个家系,家系1中三代均有患病;家系二出现隔代遗传,先证者伴有面部雀斑样色素沉着斑;家系三为单发病例,家族中其他人员未患本病。3名先证者在共聚焦激光扫描显微镜下观察到白斑区基底层色素不同程度减少及色素环不完整或缺失,色素沉着斑处基底层色素增加,家系2和家系3先证者皮肤镜下部分皮疹可见网状及片状色素结构。
[Abstract]:Hereditary symmetrical pigmentation disorder is an autosomal dominant genetic disease characterized by symmetrically scattered on the back of both hands, freckle-like pigmentation spot and pigmentation spot on the back of the foot. In this paper, three families were reported, all of them were sick in the third generation of family 1, and the second family had intergenerational inheritance, and the probands were accompanied by facial freckle pigmentation. The third family was a single case, and the rest of the family did not suffer from the disease. Three probands observed the decrease of pigment and incomplete or missing pigment ring in the basal layer of leukoplakia under confocal laser scanning microscope. The basal pigment increased at the pigmentation spot, and the reticular and flake pigment structures were found in some of the probands of pedigree 2 and pedigree 3 under dermatoscopy.
【作者单位】： 天津中医药大学;天津市中医药研究院附属医院;天津医科大学研究生院;
【分类号】：R758.5
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本文编号：2483536