Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-Case report and review of literature

Our case demonstrates phenotypic heterogeneity of PDP even between homozygous carriers of the same mutation, suggesting further modifiers. Besides, it shows that this rare SLCO2A1 mutation is not exclusively present in East-Asia, but can occur in various ethnicities, with different origin, thus the incidence is probably underestimated.