Abstract: Pachydermoperiostosis is a rare genetic disease. Herein, we report a 17-year-old male  presented with joint swelling for 2 years. Physical examination revealed forehead transverse wrinkles, clubbing fingers, parrot-mouth-like nail, multiple acne, folliculitis. Imageological examination showed thickened bone cortex, thickened periosteum, arthritis. High-throughput sequencing combined with Sanger sequencing confirmed the mutations of SLCO2A1 gene, including one heterozygous variation ［c.941-1G>A(p.?)］ and one suspected pathogenic variant ［c.1286A>G(p.Tyr429Cys)］. Genetic detecting was performed on the above gene loci of the patient's parents, and the mother carried c.941-1G>A(p.?) and the father carried c.1286A>G(p.Tyr429Cys). The symptoms were obviously alleviated after treatment with NSAIDS.

Key words: pachydermoperiostosis, SLCO2A1 gene, PGE2