Search results for "Papillon-Lefevre Disease"
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Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
2001
Papillon-Lefevre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a PLS patient is described who carries two novel mutations (706G>T and 872G>A) in the paternal and maternal chromosomes, respectively. This is the first compound patient described so far. In addition, a novel symptomless mutation (458C>T) in the cathepsin C gene is described in three homozygous individuals. Thus, not all mutations should be considered as a cause of disease, whether case studies or g…
Treatment of prepubertal periodontitis. A case report and discussion.
1992
Abstract This paper reports the treatment of prepubertal periodontitis in a 3–year-old girl with Papillon-Lefevre Syndrome. Initially, the patient was found to have a myeloperoxidase deficiency and microbiological tests have identified Bacteroides and Fusobacterium, in 60% and 25%, respectively of the total number of microbial flora cultivated. The initial treatment was extraction of all the primary teeth with grade 3 mobility, scaling, root planing and daily subgingival irrigation with a 0.2% solution of chlorhexidine. Several months before the eruption of the first permanent molars, the rest of the primary teeth were extracted. The patient was treated with daily subgingival irrigation of …