FIRST CASE REPORT OF PAPILLON-LEFÈVRE SYNDROME FROM GEORGIA
DOI:
https://doi.org/10.52340/jecm.2022.06.05.10Ключевые слова:
Papillon-Lefévre, PLS, CTSC, WES, GeorgiaАннотация
Papillon-Lefévre syndrome (PLS) is a highly rare autosomal recessive condition characterized by palmoplantar hyperkeratosis and severe early-onset widespread periodontitis, resulting in the premature loss of both primary and permanent teeth. PLS has a complex etiology, with genetic, immunological, and microbiological factors being the main causes. Mutations in the gene 11q14-q21, which codes for cathepsin C, an enzyme implicated in a range of inflammatory and immunological processes, are the leading genetic abnormalities that cause PLS. Treatment of PLS is challenging and requires a multidisciplinary approach. Here, we report the first case of PLS described in Georgia, describe a novel previously undescribed variant in the CTSC gene, and highlight the importance of whole exome sequencing (WES) in making a definitive diagnosis.
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