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Case Studies | Medical Science | Saudi Arabia | Volume 13 Issue 7, July 2024 | Rating: 5 / 10
Papillon - Lefevre Syndrome: A Rare Case Report
Abdullah Al Saleh
Abstract: Papillon - Lefevre syndrome is a rare condition, inherited through autosomal recessive inheritance, defined by hyperkeratosis of the palms and soles and severe, early - onset destructive periodontitis that results in the premature loss of both primary and permanent teeth. This syndrome is linked to mutations in the cathepsin C gene, located in the main gene locus of chromosome 11q14. Early diagnosis and intervention can help preserve the patient?s teeth and delay premature loss. This case study discusses a 6 - year - old Saudi girl who displays all the characteristic features of Papillon - Lefevre syndrome.
Keywords: Papillon - Lefevre syndrome, hyperkeratosis, periodontitis, cathepsin c gene
Edition: Volume 13 Issue 7, July 2024,
Pages: 511 - 512