elastin and Gingival-Diseases

Williams Beuren syndrome (WBS) is an unusual hereditary connective tissue disease caused by a microdeletion at position 7q11-23 and a haploinsufficiency at the elastin gene. The most frequent specific features are elf-like face, alteration of cognitive functions and cardiovascular diseases including isolated supravalvular aortic stenosis. A number of clinical findings have been reported, but none of the studies evaluating this syndrome consider the oral cavity. It is equally surprising that the gingival tissue, which carries a perfectly structured elastic fibre network, has not yet been investigated. It is important to verify whether subjects affected by WBS are more susceptible to periodontal disease than healthy subjects who are not that much affected, for periodontal disease may have deleterious effects on the cardiovascular system.. In an attempt to address this issue, the oral manifestations of 8 patients (ages from 5 to 12 years) with WBS have been investigated: dental examination, periodontal examination (gingival phenotype, plaque control record, gingival index, bone quality).. All patients had oral parafunction, tooth number abnormalities and malocclusions. Average gingival height and width were greater than normal. Plaque index was always very high except for one patient, but the gingival inflammation was not linked to the quantity of clinical plaque index. There was no obvious loss of attachment.. As with collagen, elastin is a structural macromolecule of the gingiva. These components play an important role in gingival function and in the resistance of the periodontium to daily aggressions. Unlike genetic diseases characterized by impairment of collagen macrofibrils, it is suggested that the hemizygous gene encoding elastin does not result in periodontal disease. In addition there is an existence of a possible concordance between the elastin gene haploinsufficiency and the periodontal phenotype. There might be some adaptive process to this deficiency.

Topics: Anodontia; Child; Child, Preschool; Elastin; Female; Gingival Diseases; Humans; Male; Malocclusion; Periodontal Diseases; Periodontal Index; Williams Syndrome

Eight specimens each of the following groups were investigated: gingival pyogenic granuloma, fibrous epulis, calcifying fibrous epulis, peripheral giant cell granuloma, giant cell fibroma (four gingival, four non-gingival), denture-irritation hyperplasia and fibroepithelial polyp. These lesions have diverse histopathological appearances but the composition of their connective tissue is poorly defined. The elastic system consists of a complex mixture of glycoproteins that in normal oral mucosa form three differentially distributed fibre types; oxytalan, elaunin and elastic. The elastic system was investigated by Verhoeff's haematoxylin stain, aldehyde fuchsin staining and an anti-elastin monoclonal antibody. Elastin was identified in all fibroepithelial polyps and denture-irritation hyperplasias, but in none of the other lesions. In particular, this identified a distinct difference in the extracellular matrix between the giant cell fibroma and fibroepithelial polyp. Many of the epulides included only oxytalan fibres, but the presence of oxytalan fibres did not follow any pattern within either a single lesion group, or between different lesions. However, the presence of oxytalan fibres in the absence of elastin does not necessarily support a periodontal ligament origin for reactive epulides.

Topics: Antibodies, Monoclonal; Diagnosis, Differential; Elastic Tissue; Elastin; Fibroma; Gingival Diseases; Gingival Hyperplasia; Gingival Neoplasms; Gingival Overgrowth; Granuloma, Giant Cell; Granuloma, Pyogenic; Hematoxylin; Humans; Immunohistochemistry; Mouth Mucosa; Polyps; Rosaniline Dyes; Stomatitis, Denture