Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of ... Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting (American Academy of Periodontology, 2000). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression (Armitage, 1999).
Jorgenson et al. (1975) described periodontitis in 3 (1 male) of 7 sibs in a black family. They found 12 reports of families with more than 1 affected child and unaffected parents. In 3 of the families the ... Jorgenson et al. (1975) described periodontitis in 3 (1 male) of 7 sibs in a black family. They found 12 reports of families with more than 1 affected child and unaffected parents. In 3 of the families the parents were first cousins. In 1 family, a first cousin was affected. Three pairs of like-sex twins were concordant for the trait. Rao et al. (1979) could detect no evidence of significant heritability. Saxen and Nevanlinna (1984) studied 30 families. None of the 60 parents had any sign of the disorder. Of the 52 sibs, 9 (in 7 families) were affected. The findings were considered compatible with autosomal recessive inheritance. Long et al. (1987) studied 37 kindreds with 2 rare types of familial periodontitis: a localized form usually diagnosed in late adolescence and a more generalized form with a later mean age of diagnosis. They found several families in which both forms occurred, making it unlikely that these 2 varieties have unrelated genetic causes. Shapira et al. (1997) described a family with prepubertal periodontitis in several members in 3 generations. Localized and generalized forms were found in sibs. Variability in disease expression was further indicated by the fact that a pair of monozygotic twins were similarly but not identically affected.
By sequence analysis of the CTSC gene in a family segregating prepubertal periodontitis, Hart et al. (2000) found that all affected members were homozygous for a missense mutation (602365.0013). None of those affected had palmoplantar keratoderma.
... By sequence analysis of the CTSC gene in a family segregating prepubertal periodontitis, Hart et al. (2000) found that all affected members were homozygous for a missense mutation (602365.0013). None of those affected had palmoplantar keratoderma. Hewitt et al. (2004) identified a mutation in the CTSC gene (602365.0012) in only 1 of 2 families with juvenile periodontitis. They suggested that the disorder is genetically heterogeneous and that one form represents a partially penetrant Papillon-Lefevre syndrome. - Association Studies Amer et al. (1988) reported evidence for an association between HLA alleles and susceptibility to periodontitis. They studied 49 patients with severe periodontal disease, an elderly group with minimal disease, and a young group with minimal disease. The HLA-A9 antigen was present in 36.7% of the patients with severe disease and only 2.5% of the elderly patients with minimal disease, whereas the HLA-A10 antigen was present in 30% of the resistant group and was absent from the patient group. The authors concluded that A10 may play a role in resistance to periodontal disease, whereas A9 may confer additional susceptibility.