Papillon-Lefèvre Syndrome: A Case Report

Abstract

Papillon–Lefevre syndrome (PLS) is a extreme rare of autosomal recessive inheritance characterized by disorder of keratinization, palmoplantar hyperkeratosis, progressive destructive periodontal and early loss of both deciduous and permanent dentitions.Genetic studies of patients with Papillon-Lefevre syndrome revealed mutation and loss of function of the cathepsin C gene. Because of the autosomal recessive inheritance pattern, the parents and siblings, typically are not affected cause of heterozygous for cathepsin C mutations; consanguinity is noted in approximately one third of cases . An early diagnosis of the PLS can help preserve the teeth and improves the quality life of patients . The purpose of this report was to describe the case of an 18-year-old girl with the chief complaint of sever mobility of teeth and halitosis. Extensive erythematous and hemorrhagic gingival was seen and the teeth were mobile. Hyperkeratosis of palms and plantar surface of his feet were found. These findings confirmed the Papillon–Lefèvre syndrome.Keywords: Papillon–Lefevre syndrome, Palmoplantar hyperkeratosis, loss of teeth

Keywords

• papillon–lefevre syndrome
• palmoplantar hyperkeratosis
• loss of teeth