The sensitivity and specificity of IL1R2 expression and PC was 100% (95% CI 93.15, 100%) and 60.34% (95% CI 46.64, 72.68%), and 98.85% (95% CI 97.17, 99.58%) and 92.99% (95% CI 90.09, 95.11%), respectively. The gene discussed is IL1R2; the disease is pachyonychia congenita.