Papillon-Lefèvre syndrome

Abstract

Papillon-Lefèvre syndrome is a rare, autosomal recessive genodermatosis with an estimated prevalence of one to four cases per million people, without sexual or racial predominance.1 It is clinically characterized by diffuse palmaoplantar keratoderma, associated with a severe periodontopathology, with premature loss of deciduous and permanent teeth. The cutaneous changes commonly begin during the first four years of life, and the severe destruction of periodontal regions results in loss of the primary teeth within these first four years, as well as premature loss of the permanent teeth.1 The syndrome is caused by a mutation in the gene that encodes the protein cathepsin C, a lysosomal protease known as dipeptidyl-peptidase 1, present in the epithelial regions commonly affected by the syndrome, as well as in cells of the immune system, including polymorphonuclear leukocytes, macrophages and their precursors