Papillon-Lefèvre Syndrome: Detrimental Periodontal Condition in the Affected Individuals

ABSTRACT

This paper aims to highlight the detrimental periodontal condition in patients with Papillon-Lefèvre syndrome (PLS) and the pivotal role of a Periodontist in the diagnosis of the condition. PLS is also known as palmo-plantar keratosis (PPK) with an unusual periodontal status. Uncontrolled early-onset periodontitis, which affects both primary and permanent dentitions alike, is a hallmark of the syndrome. PLS patients exhibit defected neutrophil chemotactic function due to substandard activity of Cathepsin C (CTSC) gene. The result is the failure of elimination of periodontal pathogens that leads to severe periodontal destruction. We report a case of an 11 years old Pakistani girl affected with PLS whose parents are consanguineously married. Since PLS is a rare autosomal recessive disorder and multiple consanguinity in a family, increases the risk of the occurrence of the syndrome in the off springs, the case report also highlights the importance of pre-marital genetic mapping and conception counseling for the families.

Keywords:

Papillon-Lefevre Disease; Cathepsin C; Periodontitis; Palmoplantar keratosis.

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