Mixed porokeratosis with a novel mevalonate kinase gene mutation:A case report  

作　　者：Hong-Jun Xu Guang-Dong Wen 

机构地区：[1]Department of Dermatology,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China [2]Department of Dermatology,Peking University People's Hospital,Peking University,Beijing 100044,China

出　　处：《World Journal of Clinical Cases》2022年第14期4528-4534,共7页世界临床病例杂志

摘　　要：BACKGROUND Porokeratosis is a rare,acquired,or inherited disorder of keratinization.There are numerous clinical types of porokeratosis and they can coexist in one patient and multiple members of an affected family.However,coexistence of disseminated superficial actinic porokeratosis(DSAP)and porokeratosis ptychotropica(Ppt)is rare.CASE SUMMARY A 45-year-old man presented with long-standing skin lesions.Physical examination identified numerous small,brown 2-mm to 4-mm patches on his face and several hyperkeratotic,verrucous plaques on his trunk and extremities.His father and one of his brothers also had similar lesions for years.Skin biopsies indicated a cornoid lamella in the epidermis.We identified c.155G>A mutation in the mevalonate kinase(MVK)gene,which converted a serine residue to asparagine(p.Ser52Asn)and was causative for porokeratosis in this family.A clinicopathologic diagnosis of DSAP and Ppt with a novel MVK gene mutation was made.The hyperkeratotic plaques on the patient’s scrotum were completely removed more than 10 times using a microwave knife.CONCLUSION An unusual case of DSAP coexisting with Ppt harbored a novel MVK gene mutation also present in the patient’s family.

关 键 词：Disseminated superficial actinic porokeratosis Porokeratosis ptychotropica Mevalonate kinase gene Gene mutation Microwave knife Case report 

分 类 号：R758.7[医药卫生—皮肤病学与性病学]