Palmoplantar keratoderma and edentulous status: two isolated expressions of Papillon-Lefère syndrome

Papillon-Lefère Syndrome (PLS) is a rare, autosomal recessive disease comprising palmoplantar keratoderma and rapidly progressive and devastating periodontitis, affecting the primary as well as the permanent dentition, attributed to a point mutation of the Cathepsin C gene (CTSC). One of our patients had early onset of severe skin lesions with recurrent pyogenic infections while his elder sibling was edentulous without any other pyogenic infections. This paper describes the clinical variants of PLS in two siblings and briefly reviews the relevant available literature.