Abstract: Objective: To detect pathogenic gene mutations in three patients with porokeratosis. Methods: Genomic DNA was extracted from the peripheral blood of 3 patients with porokeratosis, and the mutant genes of the patients were detected by high-throughput sequencing, which was then verified by Sanger sequencing. Results: MVD gene mutation was found in all three cases of porokeratosis, including c.875A＞G (p.Asn292Ser) in one patient and (c.746 T＞C) (p.Phe249Ser） in 2 patients. Conclusion: This study reconfirmed that MVD gene is a common mutation of porokeratosis.

Key words: porokeratosis, gene mutation, MVD gene