The study identified two novel mutations in the MVD gene (c.1122 + 1G > A, c.576G > T) and one novel mutation in the FDPS gene (c.986A > C) in seven sporadic Chinese porokeratosis (PK) patients. Among the patients, there were two cases of disseminated superficial actinic porokeratosis (DSAP) and five cases of disseminated superficial porokeratosis (DSAP). A total of five heterozygous mutations were found, including two already known MVD mutations (c.1A > G and c.746T > C). The MVD c.746T > C mutation was identified in six patients from Jiangxi province, accounting for 50% of all 12 cases of MVD mutations. Porokeratosis is an autosomal dominantly inherited disorder caused by mutations in mevalonate pathway genes such as MVD, MVK, PMVK and FDPS. Whole exome sequencing and Sanger sequencing were used to detect mutations, pathogenicity was assessed by bioinformatics tools such as PROVEAN, SIFT, PolyPhen-2 and Mutation Taster. Research has expanded the spectrum of mutations in mevalonate pathway genes associated with PK.