A Rare Case of Papillon-Lefevre Syndrome: A Case Report

Abstract

Papillon Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by diffuse palmoplantar hyperkeratosis, rapidly progressive and devastating periodonitis, and pyodermas. The etiopathogenesis of the disorder is multifactorial, with genetic and immunological factors playing a major role. Consanguinity is a contributing factor. Genetic mutations of the gene 11q14- q21 encoding for cathepsin-c, a lysosomal protease that activates enzymes involved in a variety of inflammatory and immune processes. Management directed towards halting periodontal destruction using conventional periodontal treatment, systemic antibiotics, oral hygiene instructions, antiseptic mouth rinses. Palmoplantar hyperkeratosis usually treated with topical application of emollients, keratolytic agents, topical steriods and systemic retinoids.