Laboratory studies of a family manifesting premature exfoliation of deciduous teeth

Abstract

In a previous publication, we described the clinical and radiographic findings of a family in which the children manifested premature exfoliation of the deciduous teeth. We now report for the same family the results of extensive laboratory studies performed on blood and urine, analysis of periodontal microflora, and a family pedigree. We demonstrated the presence of putative periodontal pathogens in the subgingival microflora, elevated levels of serum antibodies reacting to Bacteroides gingivalis, Capnocytophaga gingivalis, and C. sputigena in 2 of the children, and significantly suppressed monocyte chemotaxis in all 3 children. Phosphoethanolamine was found in the urine of the father and all 3 children, but not in the mother. Likewise, serum alkaline phosphatase was abnormally low for all 3 children, and was at the extreme low end of normal range for the father, but was normal for the mother. On the basis of the alkaline phosphatase and phosphoethanolamine measurements, we assigned a diagnosis of hypophosphatasia to the 3 children. Phosphoethanolamine and alkaline phosphatase were also abnormal in the paternal grandmother and her brother. The son of this brother who was deceased had a daughter manifesting premature loss of the primary teeth. The data are consistent with an autosomal dominant mode of transmission. In the light of our findings, hypoplastic cementum must be considered in the etiology of some forms of early-onset periodontitis.

Analysis of the periodontal microbiota in childhood-type hypophosphatasia

“…Periodontitis can be viewed as a disturbance of the microbial ecology resulting in an increase in the number of Gram-negative and anaerobic bacteria. Case reports have described an association between HP and periodontitis (Baab et al, , 1986Page and Baab, 1985;Watanabe et al, 1993). Baab et al (1985Baab et al ( , 1986 reported the presence of putative periodontal pathogens in the subgingival microflora and elevated levels of serum antibodies to the periodontal pathogen Porphyromonas gingivalis in HP patients.…”

“…Case reports have described an association between HP and periodontitis (Baab et al, , 1986Page and Baab, 1985;Watanabe et al, 1993). Baab et al (1985Baab et al ( , 1986 reported the presence of putative periodontal pathogens in the subgingival microflora and elevated levels of serum antibodies to the periodontal pathogen Porphyromonas gingivalis in HP patients. Watanabe et al (1993) observed a severe periodontal destruction in the permanent dentition associated with serum antibodies to Porphyromonas gingivalis in a subject suffering from HP.…”

Genes and Gene Polymorphisms Associated with Periodontal Disease

“…These children were assigned a diagnosis of hypophosphatasia on the basis of alkaline phosphatase and phosphoethanolamine levels. Baab et al (1986) noted that their data suggest an autosomal-dominant mode of transmission and suggest that hypophosphatasia might be considered in the etiology of some forms of pre-pubertal periodontitis and as a possible explanation for certain sitespecific periodontal destruction.…”

“…The concomitant lack of or reduction in connective tissue attachment between the tooth and bone is thought to account for the early spontaneous exfoliation of the deciduous teeth. Baab et al (1986) described a family where all three children manifested premature exfoliation of the deciduous teeth similar to that seen in pre-pubertal periodontitis (Page et al, 1983). These children were assigned a diagnosis of hypophosphatasia on the basis of alkaline phosphatase and phosphoethanolamine levels.…”

Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report

“…Evidence of skeletal defects is found in nearly all patients and includes hypomineralization, rachitic changes, and incomplete vertebrate ossification and occasionally lateral bony spurs on the ulnae and fibulae. [5]…”