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Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis 被引量:4

Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis
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摘要 Porokeratosis (PK),first described in 1983,is a chronic parakeratotic skin disorder.Clinical types include porokeratosis of Mibelli (PM),disseminated superficial PK,disseminated superficial actinic porokeratosis (DSAP),facial PK,and ptychotropica porokeratosis (PP).Dermoscopic images of PK show an obvious annular margin with scales and an atrophied center.[1] Wood's lamp pictures of PK present a diamond necklace-like structure.[2]Gene mutations in mevalonate pathway enzymes,such as mevalonate kinase (MVK),phosphomevalonate kinase (PMVK),mevalonate decarboxylase (MVD),and famesyl diphosphate synthase (FDPS),may be involved in the pathogenesis of PK.[3,4] In the present study,five sporadic patients with PK were recruited.Dermoscopic features were investigated,and genetic testing was conducted. Porokeratosis (PK),first described in 1983,is a chronic parakeratotic skin disorder.Clinical types include porokeratosis of Mibelli (PM),disseminated superficial PK,disseminated superficial actinic porokeratosis (DSAP),facial PK,and ptychotropica porokeratosis (PP).Dermoscopic images of PK show an obvious annular margin with scales and an atrophied center.[1] Wood's lamp pictures of PK present a diamond necklace-like structure.[2]Gene mutations in mevalonate pathway enzymes,such as mevalonate kinase (MVK),phosphomevalonate kinase (PMVK),mevalonate decarboxylase (MVD),and famesyl diphosphate synthase (FDPS),may be involved in the pathogenesis of PK.[3,4] In the present study,five sporadic patients with PK were recruited.Dermoscopic features were investigated,and genetic testing was conducted.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第14期1747-1748,共2页 中华医学杂志(英文版)
基金 This study was supported by a grant from the Beijing Natural Science Foundation (No. 7163216).
关键词 DERMOSCOPY MUTATION POROKERATOSIS Dermoscopy Mutation Porokeratosis
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