Clinical Studies of One Family Manifesting Rapidly Progressive, Juvenile and Prepubertal Periodontitis

Abstract

We report clinical, radiographic and historical data on a large family with an unusually high prevalence of periodontitis. The proband, a 20‐year‐old black male, had the classic features of juvenile periodontitis (JP). His father was periodontally normal, while his mother had lost all her teeth at age 27 because of rapidly progressive periodontitis (RP). In addition to the 13 living children the couple had had 2 miscarriages. Of the children, one had RP, five had JP and two had prepubertal periodontitis (PP). Both maternal grandparents of the proband had become edentulous at an early age, presumably because of early‐onset periodontitis. Four of 10 siblings of the proband's mother had early‐onset periodontitis. In contrast, the paternal grandparents did not have early‐onset periodontitis nor was periodontitis unusually prevalent in the siblings of the proband's father. The pedigree for this family is consistent with, but does not prove, an X‐linked dominant pattern of genetic transmission. The natural history of early‐onset periodontitis and the relationship among PP, JP and RP are not understood. The fact that the mother of the proband had RP and she had offspring with RP, JP and PP indicates a close relationship among these diseases and argues in favor of a common underlying mechanism. JP was not preceded by PP in the proband nor his affected 21‐year‐old brother, but one sister had PP, and at age 15 manifested JP. In her case, the alveolar bone around the deciduous molars had been destroyed, but it regenerated as the permanent premolare erupted. The idea that JR has its onset during the circumpubertal period is supported by the fact that seven of the postpubertal family members had periodontitis, while only two of six prepubertal children manifested the disease. In addition, radiographs of the proband revealed that the alveolar bone around his first permanent molars was normal at age 11½ but bone resorption was clearly apparent by age 12. On the other hand, onset around a given tooth can occur at times far removed from puberty. The members of this family also manifested a high caries rate, and in some cases the first permanent molars had been lost, making diagnosis difficult. Our observations illustrate some of the pitfalls and problems in assigning diagnoses in family studies of this type.

Prepubertal periodontitis

“…Cumulative studies in the literature and the results reported in our patient show that prepubertal and juvenile periodontitis do not necessarily occur in "otherwise healthy adolescence", as described by Baer (1971) and Page et al, (1983). Most of the patients described in the literature have abnormal neutrophil and monocyte functions (Pritchard et al 1984, Vandesteen et al 1984, Spektor et al, 1985 and are usually suffering from upper respiratory tract infections and otitis media at a fairly early age. In the case presented, the estimated age at which the disease started is 7 or 8 years.…”

Periodontal status among relatives of aggressive periodontitis patients and reliability of family history report

“…Marazita et al (1994), in their (predominantly black) North‐American population, found around 50% of examined relatives of EOP patients to be affected with the same condition. Other studies presented even higher percentages of affected relatives, but these were either examined relatives of only a group of selected families which presented already with at least one or more relatives affected (Hart et al 1991, 1993), or described specific families, which presented an exceptionally high number of affected family members (Spektor et al 1985, Hodge et al 2000, Trevilatto et al 2002). Therefore, they do not represent percentage figures of a random population.…”

Partial expression of the Papillon‐Lefèvre syndrome in 2 unrelated families

“…Destructive periodontal disease affectmg the deciduous dentition has otily been described in a few isolated case reports. (Page et al 1983, Spector et al 1985, Page et al 1985. While there is some evidence for a genetic component to adult periodontitis, a form of early onset periodontitis.…”