Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.

Background: Papillon Lefevre syndrome (PLS) is an autosomal recessive disorder that results from a mutated gene that encodes a lysosomal peptidase known as cathepsin C (CTSC). The clinical presentation of PLS involves mainly palmoplantar keratosis and periodontitis with a variable degree of severity.

Subjects: and methods: Our study included ten patients with a broad spectrum of palmoplantar keratosis and periodontitis severity.