掌跖及泛发性汗孔角化症一家系报道

The first pedigree report of porokeratosis plantaris,palmaris,et disseminata in China

报告我国首例掌跖及泛发性汗孔角化症一家系调查。先证者10岁时右手中指掌尺侧出现一油菜籽大小的圆形角化性丘疹,继后发现面部出现相似丘疹,且皮损逐渐扩大并泛发全身;组织病理检查可见角化不全柱,符合汗孔角化症;家系调查为5代共90人,结果患病26例,其中男性17例,女性9例,符合常染色体显性遗传特点。诊断为显性遗传性掌跖及泛发性汗孔角化症。对该病的临床特征、组织病理、遗传方式及鉴别诊断等进行了讨论。

The pedigree of porokeratosis plantaris,palmaris,et disseminata in China was firstly reported.The proband was a21-year-old man,whose lesions first appeared on the palm side of right middle finger at the age of ten,and subsequently on the areas exposed to sunlight ,extraordinarily on the face,and then spread through the whole part of body,including on the areas not exposed to ultraviolet radiation.A biopsy was taken from the lower leg of the proband,and the changes of histopathology indicated that this case accorded with porokeratosis.On closer investigations into the whole pedigree,mem-bers amounted to90in5generations,including26such cases(17males and9females).Thus after analyzing the data,this pedigree pre sent ed the characteristics of autosomal dominant inheritance.Finally this pedigree was diagnosed as auto somal dominant in herited disease of porokeratosis plantaris,palmaris,et disseminata.The clinical features,inheritance mode and differential di agnosis of several subtypes of this disease have been discussed in the paper.