Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease  

作　　者：Cheng Zhou Guang-Dong Wen Lwin Myint Soe Hong-Jun Xu Juan Du Jian-Zhong Zhang 

机构地区：[1]Department of Dermatology, Peking University People's Hospital, Beijing 100044, China

出　　处：《Chinese Medical Journal》2016年第23期2834-2839,共6页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Natural Science Foundation of China （No. 81201221） and Beijing Municipal Natural Science Foundation （No. 7154247）.

摘　　要：Background： Acne inversa （AI）, also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the y-secretase genes in two Chinese families with AI. Methods： In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with inultiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSENI, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. Results： Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c. 194T〉G （p.L65R） and a splice site mutation c. 167-2A〉G. Conclusions： The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.Background： Acne inversa （AI）, also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the y-secretase genes in two Chinese families with AI. Methods： In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with inultiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSENI, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. Results： Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c. 194T〉G （p.L65R） and a splice site mutation c. 167-2A〉G. Conclusions： The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

关 键 词：Acne lnversa Coinedones Dowling-Degos Disease Hidradenitis Suppurativa PSENEN Squamous Cell Carcinoma 

分 类 号：Q754[生物学—分子生物学] S852.659.6[农业科学—基础兽医学]