Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon–Lefèvre syndrome

Our patient with Papillon–Lefèvre syndrome with a novel p.G430V and recurrent p.G301S missense mutation showing aggravation of skin lesions in wintertime. A temperature-dependent cathepsin C enzymatic activity study indicates a possible association between seasonal fluctuations, minimal dental involvement and temperature.