[1]乔桂芝,王晓林,刘鸣.与KRT17基因突变相关的多发性脂囊瘤家系1例[J].中国皮肤性病学杂志,2014,(01):77-78.
 QIAO Gui-zhi,WANG Xiao-lin,LIU Ming.A Case of Steatocystoma Multiplex Associated with A Keratin 17 Mutation[J].The Chinese Journal of Dermatovenereology,2014,(01):77-78.
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KRT17基因突变相关的多发性脂囊瘤家系1例
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2014年01期
页码:
77-78
栏目:
病例报告
出版日期:
2014-01-20

文章信息/Info

Title:
A Case of Steatocystoma Multiplex Associated with A Keratin 17 Mutation
作者:
乔桂芝王晓林刘鸣
济南市皮肤病防治院,山东 济南 250001
Author(s):
QIAO Gui-zhi WANG Xiao-lin LIU Ming
(Department of Jinan Dermatosis Prevention Hospital, Jinan 250001, China)
关键词:
脂囊瘤多发性 KRT17基因 突变
Keywords:
Steatocystoma multiplex KRT17 gene Mutation
分类号:
R 739.5
文献标志码:
B
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。
Abstract:
A 38-year-old male presented with multiple papules on the axillae and upper chest for 6 years.His father and son had the similar 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, leading to amino acid substitution p.R94C).

参考文献/References:


[1] Covello SP,Smith FJD,Sillevis Smitt JH,et al.Keratin 17 mutation cause either steatocystoma multiplex or pachyonychia congenital type2[J].Br J Dermatol,1998,139(3):475-480.
[2] 王秀英,史耀舟,叶月仙,等.多发性脂囊瘤患者角蛋白17 基因突变的研究[J].中华医学杂志,2001,81(5):540-543.
[3] Feng YG,Xiao SX,Ren XR,et.al.Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts[J].Br J Dermatol,2003,148(3):452-455.
[4] Kaya TI,lkizoglu G,Kokturk A,et al.A simple surgical technique for the treatment of steatocystoma multiplex[J].Int J Dermatol,2001,40(12):785-788.
[5] 李晓涛,周根儒.多发性脂囊瘤1例报告[J].中国皮肤性病学杂志,2000,14(6):419.

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更新日期/Last Update: 2014-01-20