DOI: https://doi.org/10.36719/2663-4619/113/253-261
Saadat Ahmadova
“Yeni klinika” medical institution
https://orcid.org/0009-0004-9271-2300
saadetahmadova@gmail.com
Papillon Lefevre Syndrome
Abstract
Papillon-Lefevre syndrome (PLS) is a genetic hereditary disease characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. Oral symptoms begin to manifest themselves when baby teeth erupt.
The study showed that the condition improves with early intervention and proper treatment. The pathogenesis of PLS has been clearly defined and is associated with microbiological, immunological and genetic factors. This clinical example examines the treatment of two daughters – 4-year-old N. with protocol number P2025728340 and 7-year-old D. with protocol number P2025733304 – based on a parent’s appeal from the city of Nakhchivan to the Yeni Clinic medical institution situated in Baku 2 years ago. When they applied for treatment, the children had lost their teeth, had crusting (hyperkeratosis) on their hands and feet, and both children had dentures in their mouths. In addition, the children’s physical development was normal, and their height and weight were normal. However, the dentures were not made by a pediatric dentist, but by a dentist who specializes in adults.
After the patients underwent tests such as a complete blood count, ultrasound of the internal organs, C-reactive protein, and peripheral blood smear, and no other problems were found, genetic analysis was recommended. Although the family did not agree to this analysis at first, a general agreement was reached later and the genetic analysis was performed. As a result of the analysis, a diagnosis of Papillon-Lefevre syndrome was made.
The patients were advised to have a comprehensive examination every six months. Currently, the children’s physical and mental development is normal. Hyperkeratosis on the hands and feet has decreased. The patients were advised to see a pediatric dentist to change the dentures in their teeth to prevent certain defects in the jaw. The dentist regularly deals with periodontitis and other dental problems.
It was concluded that the periodontal treatment applied significantly changed the condition of the sick children for the better.
Keywords: Papillon-Lefevre syndrome, Palmoplantar, Cathepsin C, Periodontitis, Hyperkeratosis