Case Report: A Case of Hereditary Gingival Fibromatosis With a High Level of Human ß Defensins in Gingival Epithelium.

Hereditary gingival fibromatosis [HGF, (MIM 135300)], a rare benign oral condition, has several adverse consequences such as aesthetic changes, malocclusion, speech impediments, and abnormal dentition. However, relatively few studies have addressed the beneficial effects of thick gingival tissues in resisting external stimuli. In this report, we present a unique case of a family affected by HGF that manifests as a 'healthy' gingiva. Human ß-defensins (hBDs) are known to play a pivotal role in the clearance and killing of various microbes, and contribute to maintaining a healthy oral environment, which is currently emerging research area. However, the expression pattern and localisation of hBDs in patients with HGF have not yet been reported. hBD-2 and hBD-3 in the pedigree we collected had relatively elevated expression. High hBD levels in the gingival tissue of patients from the family may be beneficial in protecting oral tissue from external stimuli and promoting periodontal regeneration, but their role and the mechanisms underlying HGF need to be clarified.

Immunoexpression of α2-integrin and Hsp47 in hereditary gingival fibromatosis and gingival fibromatosis-associated dental abnormalities.

OBJECTIVE: The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingival (NG). STUDY DESIGN: Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens from two unrelated families with hereditary gingival fibromatosis (Families 1 and 2) and from one family with a gingival fibromatosis-associated dental abnormality (Family 3); NG samples were used for comparison. The results were analysed statistically. RESULTS: Immunoreactivity for α2-integrin and Hsp47 was observed in the nucleus of epithelial cells of both the basal and suprabasal layer and a more discreet signal was noted in connective tissue in all study samples. Hsp47 showed higher immunoreactivity in Family 2 compared with the other families (p ≤ 0.05). Despite the markup α2-integrin was higher in Family 3 there was no statistically significant difference between the families studied (p ≥ 0.05). CONCLUSIONS: Our results confirmed the heterogeneity of GF, such that similar patterns of expression of the condition may show differences in the expression of proteins such as Hsp47. Although no difference in α2-integrin expression was observed between GF and NG groups, future studies are necessary to determine the exact role of this protein in the various forms of GF and whether it contributes to GF pathogenesis.

Idiopathic gingival fibromatosis associated with generalized aggressive periodontitis: a case report.

Idiopathic gingival fibromatosis, a benign, slow-growing proliferation of the gingival tissues, is genetically heterogeneous. This condition is usually part of a syndrome or, rarely, an isolated disorder. Aggressive periodontitis, another genetically transmitted disorder of the periodontium, typically results in severe, rapid destruction of the toothsupporting apparatus. The increased susceptibility of the host population with aggressive periodontitis may be caused by the combined effects of multiple genes and their interaction with various environmental factors. Functional abnormalities of neutrophils have also been implicated in the etiopathogenesis of aggressive periodontitis. We present a rare case of a nonsyndromic idiopathic gingival fibromatosis associated with generalized aggressive periodontitis. We established the patient"s diagnosis through clinical and radiologic assessment, histopathologic findings and immunologic analysis of neutrophil function with a nitro-blue-tetrazolium reduction test. We describe an interdisciplinary approach to the treatment of the patient.

Familial gingival fibromatosis; no correlation with HLA-antigen. A family study.

Familial gingival fibromatosis is generally reported to be inherited as an autosomal dominant trait. We investigated 2 families with few siblings affected with gingival fibromatosis. No linkage between HLA antigen and the phenomenon was found. These results support the idea of the autosomal dominant nature of familial gingival fibromatosis.