Disease relevance of Papillon-Lefevre Disease

• However, mutations in DPP I have now been shown to underlie Papillon-Lefevre syndrome and pre-pubertal periodontitis [1].
• Genomes of the two herpesviruses occur frequently in severe adult periodontitis, localized and generalized juvenile periodontitis, Papillon-Lefèvre syndrome periodontitis, Down's syndrome periodontitis, HIV-associated periodontitis and acute necrotizing ulcerative gingivitis [2].
• Prevention of bacterial endocarditis in localised juvenile periodontitis and Papillon-Lefevre syndrome patients [3].

High impact information on Papillon-Lefevre Disease

• Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans [4].
• Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome [5].
• Addition of these cathepsin C gene mutations into the expanding Papillon-Lefèvre syndrome mutation database allows further development of genotype/phenotype correlations towards understanding this severe genodermatosis [6].
• Alterations in the oxidation products, antioxidant markers, antioxidant capacity and lipid patterns in plasma of patients affected by Papillon-Lefèvre syndrome [7].
• The Papillon-Lefèvre syndrome is characterized by palmoplantar hyperkeratosis and juvenile periodontitis that results in the precocious loss of both the deciduous and permanent teeth [8].

Chemical compound and disease context of Papillon-Lefevre Disease

• Treatment of Papillon-Lefèvre syndrome with etretinate [9].
• We report two female patients with Papillon-Lefèvre syndrome in whom treatment with oral isotretinoin produced remarkable improvement of the keratoderma within 2 weeks [10].
• Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin [11].
• Elevated hydroperoxide levels and antioxidant patterns in Papillon-Lefèvre syndrome [12].
• Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs [13].

Biological context of Papillon-Lefevre Disease

• Germline mutations in the lysosomal protease cathepsin C gene (CTSC) have been described in a single patient with HMS and in several individuals with the clinically related disorder Papillon-Lefevre syndrome (PLS) [14].
• Families with individuals segregating for the Haim Munk syndrome and the Papillon-Lefèvre syndrome were examined to determine disease status, and genotyped for microsatellite DNA markers closely linked to the acidic (type I) and the basic (type II) cytokeratin genes on chromosomes 12 and 17 [15].
• We have performed genetic linkage studies to test for linkage between polymorphic DNA loci within 2 cytokeratin gene families and the disease phenotype in Haim Munk syndrome and Papillon-Lefèvre syndrome [15].
• We think that the depressed chemotaxis of peripheral neutrophils, and higher expression of HLA-DR and CD11b molecules in peripheral leukocytes were useful in explaining the pathogenesis of the Papillon-Lefèvre syndrome [16].
• Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients [17].

Gene context of Papillon-Lefevre Disease

• Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome [18].
• Investigations revealed it as a case of hyperkeratosis palmoplantaris (Papillon-Lefèvre syndrome), which is a rare form of an ectodermal dysplasia [19].

Analytical, diagnostic and therapeutic context of Papillon-Lefevre Disease

• We report three patients with papillon-lefèvre syndrome who showed a remarkable degree of improvement after treatment with an oral retinoid [20].

References