Abstract
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.
Highlights
IntroductionPapillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which was first described in 1924 by two French physicians, Papillon and Lefevre [1]
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which was first described in 1924 by two French physicians, Papillon and Lefevre [1]. It is characterized by erythamatous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater [2]
The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis
Summary
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which was first described in 1924 by two French physicians, Papillon and Lefevre [1] It is characterized by erythamatous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater [2]. Studies in PLS patients have shown more than 90% reduction in cathepsin C activity [9]. Another important etiologic factor is an alteration of host defense owing to the decreased function of lymphocytes, polymorphonuclear leukocytes (PMNs), or monocytes [10]. Gramnegative microbial polysaccharides are generally recognized to be a primary factor in the etiology of periodontitis including periodontitis in LPS [11, 12]. The present case series report two cases of PLS in pediatric patients which are treated with multidisciplinary approach
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