与KRT17基因突变相关的多发性脂囊瘤家系1例  

A Case of Steatocystoma Multiplex Associated with A Keratin 17 Mutation

作　　者：乔桂芝[1] 王晓林[1] 刘鸣[1] 

机构地区：[1]济南皮肤病防治院,山东济南250001

出　　处：《中国皮肤性病学杂志》2014年第1期77-78,共2页The Chinese Journal of Dermatovenereology

摘　　要：患者男,38岁。胸部、腋窝丘疹、结节6年。其父亲及儿子同患此病。皮损组织病理示;真皮内可见多个腺囊样结构,囊壁由数层鳞状上皮细胞组成,壁内面为一层嗜伊红性均质化角质层。遗传学检测:发现一KRT17基因突变位点c.280C>T。A 38-year-old male presented with multiple papules on the axillae and Upper chest for 6 years. His father and son had the shuilar skin lesions. Histopathology revealed a cystic structure. The lining of the cyst was composed of few cell layers of stratified squamous epithelium consisting, without a granular layer.DNA analysis identified a heterozygous missense mutation in KRT17（c. 280C 〉 T, leadiug to amino acid substitution p.R94C）.

关 键 词：脂囊瘤 多发性 KRT17基因 突变 

分 类 号：R739.5[医药卫生—肿瘤]