Papillon–Lefèvre syndrome (PLS) is an infrequent autosomal recessive inherited disorder characterized by palmoplantar hyperkeratosis, frequent cutaneous and systemic pyogenic infections, susceptibility to bacterial infections, intracranial calcifications, and mental retardation and destructive periodontitis beginning in childhood, premature loss of permanent teeth, caused by mutations in cathepsin C (CTSC) gene.
Here, we described six cases with Papillon-Lefevre Syndrome.
Genetic analysis revealed mutations in cathepsin C (CTSC) gene the patients.
Patient 1: A 13-year-old female patient referred with liver abscess who was admitted abdominal pain and fever. She has had recurrent skin abscess, palmoplantar hyperkeratosis. Her 22-year-old sister had destructive periodontitis and she had palmoplantar hyperkeratosis.
Patient 2: A 10-year-old female patient had onychomycosis on feed nails that referred from dentist followed destructive periodontitis. Her 9-year-old brother had palmoplantar hyperkeratosis, premature loss and severe inflamation of teeth.
Patient 3: A 12-year-old female patient referred with recurrent nasal polyposis that was treated to asthma. She had palmoplantar hyperkeratosis in her examination and her sister also had hyperkeratosis.
Generally, these patients were referred to dentistry for dental complaints, but when they were ascertained about their history that was observed recurrent and resistant infections. Consequently like these our cases, patients with severe periodontitis should also be evaluated with immunological parameters.