Novel CTSC mutations in a patient with Papillon-Lefevre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement

SIR, Papillon–Lefe`vre syndrome (PLS) is an autosomal recessivegenodermatosis mainly characterized by early-onset periodontitisand palmoplantar keratoderma. Recurrent pyogenic skininfections, usually of mild degree and self-healing, are relativelycommon additional features.1,2 PLS is caused by lossof-function mutations in the CTSC gene, which encodes forcathepsin C, a lysosomal cysteine protease required forthe activation of granule-associated serine proteases inimmune ⁄inflammatory cells.