Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterised by palmar plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentition. It exhibits a prevalence of one to four per million people in the population, and carriers are thought to be present in two to four per thousand persons. Accelerated periodontitis appears to be caused by defects in neutrophil function and multiple immune-related mechanisms. Genetic studies revealed mutation and loss of function of the Cathepsin C gene.
This poster presents a case report of a 14-year-old boy who complained of loose teeth and discomfort in chewing along with recurrently swollen, friable, and receding gums, with a review of literature. The features are very representative and hence earmarked for the poster.
Parole chiave: Papillon-Lèfevre Disease, periodontitis, palmoplantar, keratosis, neutrophil defect, Cathepsin C
