Epidermal second-hit mutation in MVK gene associated with linear porokeratosis  

作　　者：Anqi Zhao Xinyi Wang Chaolan Pan Yumeng Wang Qiaoyu Cao Min Li Ming Li 

机构地区：[1]Department of Dermatology,The Children's Hospital of Fudan University,Shanghai 201102,China [2]Department of Dermatology,Xinhua Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China [3]Institute of Dermatology,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China [4]Department of Dermatology,Minhang Hospital,Fudan University,Shanghai 201199,China [5]Department of Dermatology,Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University,Suzhou Dushu Lake Hospital),Suzhou,Jiangsu 215000,China

出　　处：《Genes & Diseases》2025年第1期22-24,共3页基因与疾病(英文)

基　　金：supported by grants from the National Natural Science Foundation of China(No.82073422,82273504).

摘　　要：Porokeratosis encompasses a group of keratinization disorders with distinct clinical variants,including porokeratosis of Mibelli,disseminated superficial actinic porokeratosis,porokeratosis plantaris,palmaris et disseminata,and linear porokeratosis(LP).1 Familial porokeratosis has been associated with pathogenic variants in genes of the mevalonate pathway(such as MVK,PMVK,MVD,and FDPS),a vital metabolic pathway responsible for synthesizing sterols and isoprenoid metabolites1-3.

关 键 词：kerato LINEAR 

分 类 号：R751[医药卫生—皮肤病学与性病学]