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Patient: Female, 11Final Diagnosis: Hereditary gingival fibromatosisSymptoms: Gingival overgrowthMedication: —Clinical Procedure: SurgerySpecialty: DentistryObjective:Rare diseaseBackground:Hereditary gingival fibromatosis is characterized by slowly progressive enlargement of the gingiva that can present as an isolated condition or a part of various syndromes.Case Report:An 11-year-old female reported with a gingival lesion that caused masticatory problems and poor oral hygiene. Periodontal examination revealed a dense tissue covering 30% of her teeth crowns within both jaws. Panoramic x-ray showed a normal bone height and teeth positioning. The patient did not use any medications, but a similar condition was also present in other family members. The patient was diagnosed with hereditary gingival fibromatosis. Surgery was carried out to remove excess of gingival tissue. Post-surgical healing was uneventful, but four weeks after the first surgery, the condition recurred amounting to 45% of the initial tissue volume presenting in the mandible, and 25% in the maxilla. Two months later, no significant growth was noted in the mandible, while in the maxilla, growth increased to 40% of the pre-operative state. Analysis by polarized microscope showed a significant increase of thin fibrotic fibrils that contributed 80% of the total pool of collagen fibrils in the patient’s gingiva, but only 25% in healthy gingiva. The patient was receiving outpatient care for follow-up every three months and surgical intervention had not been planned as long as her periodontal health would not be compromised.Conclusions:It is currently not clear whether the extent of the fibrosis had a mechanistic association with the ratio of gingival tissue re-growth in our case study. Further studies are needed to explain this association and improve the management of this condition.

Background/Aims Autotransplantation of developing premolars is an established treatment to replace missing teeth in the anterior maxilla in growing patients with a reported success rate of over 90%. The normal shape of the alveolus is observed after transplantation, but data on the presence and amount of alveolar bone after healing has not been previously reported. The aim of this study was to look for potential differences in alveolar bone dimensions between sites where autotransplanted premolars replaced missing incisors and control sites of contralateral incisors. Material/Methods There were 11 patients aged between 10 and 12 years five months (mean age: 10 years and 7 months) who underwent autotransplantation of a premolar to replace a central incisor. Cone Beam Computed Tomography (CBCT) performed at least 1 year after transplantation served to evaluate bone at sites of autotransplanted premolars and controls (contralateral maxillary central incisor). The thickness of the labial bone, plus the height and width of the alveolar process were measured on scans and compared at transplant and control sites. Results Mean thicknesses of the labial bone at the transplant and control sites were 0.78 mm and 0.82 mm respectively. Mean alveolar bone height was 15.15 mm at the transplant sites and 15.12 mm at the control sites. The mean marginal thickness of the alveolus was 7.75 mm at the transplant sites and 7.98 mm at the control sites. Mean thicknesses of the alveolus for half of its vertical dimension at the transplant and control sites were 7.54 mm and 8.03 mm, respectively. Conclusion The mean values of bone thickness, width and height of the alveolar process at sites of transplanted premolars were comparable to the mean values for the control incisors. Successful autotransplantation of developing premolars to replace missing central incisors allowed preservation of alveolar bone in the anterior maxilla.

Aim of the study. To evaluate differences in periodontal parameters and oral hygiene between cleft and control sides in growing patients with unilateral cleft. Materials and Methods: 15 patients, aged 10 to 18 years, with unilateral cleft lip and palate. Evaluation of probing pocket depth (PPD), clinical attachment level (CAL), gingival recession (REC), vestibule depth (VD), keratinized gingiva (KG), presence of plaque (PCR) and bleeding on probing (BoP) for eight maxillary anterior teeth were performed. Types of fraena and mucosa deformities were also evaluated. Results. Significant differences for PD (but not for CAL) were found only at some surfaces of lateral incisors and canines. Keratinized gingiva was significantly narrower at lateral incisors, canines and first premolars on the cleft side (mean values were: 2.8 mm and 5.4 mm for lateral incisors, 2.7 mm and 3.9 mm for canines, 3.1 mm and 4.7 mm for first premolars, respectively for the affected and the control side). Significantly shallower vestibule at central and lateral incisors was found at some group of teeth (mean values were: 7.0 and 9.2 mm for central incisors, 8.6 and 11.6 mm for lateral incisors, respectively for the affected and control side). Due to tissue malformations it was difficult to assess the upper labial fraena. High scores were recorded for PCR and BoP both on the cleft and the control side. Conclusions. Malformations of soft tissues caused by cleft and previous surgical procedures negatively affected periodontal parameters on the cleft side. It is requisite to introduce periodontal assessment into comprehensive approach in children with clefts to control development of periodontal disease.

We report that fibrosis in HGF gingival tissues is associated with increased synthesis of HSP47. This finding was confirmed by an in vitro study, where excessive production of collagen I was associated with increased synthesis of HSP47, TGF-β1 and CTGF by HGF gingival fibroblasts. Moreover, the shift in the TIMP-1/MMP-1 ratio identifies increased synthesis of TIMP-1 as one of the processes associated with collagen I overproduction in HGF fibroblasts.

OBJECTIVES To establish whether two families from Malopolska and Mazovia Provinces in Poland are affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. MATERIAL AND METHODS Six subjects with hereditary gingival fibromatosis and five healthy subjects were enrolled in the study. Gingival biopsies were collected during gingivectomy or tooth extraction and used for histopathological evaluation. Total RNA and genomic DNA were purified from cultured gingival fibroblasts followed by cDNA and genomic DNA sequencing and analysis. RESULTS Hereditary gingival fibromatosis was confirmed by periodontal examination, X-ray and laboratory tests. Histopathological evaluation showed hyperplastic epithelium, numerous collagen bundles and abundant to moderate fibroblasts in subepithelial and connective tissue. Sequencing of exons 19–22 of the Son-of-Sevenless-1 gene did not reveal a single-cytosine insertion nor other mutations. CONCLUSIONS Patients from two Polish families under study had not been affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. Further studies of the remaining regions of this gene as well as of other genes are needed to identify disease-related mutations in these patients. This will help to unravel the pathogenic mechanism of gingival overgrowth.

Background Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues, to severe resulting in diastemas or malposition of teeth. Both, autosomal-dominant and autosomal-recessive forms of HGF are described. The aim of this review is a clinical overview, as well as a summary and discussion of the involvement of candidate chromosomal regions, pathogenic variants of genes, and candidate genes in the pathogenesis of HGF. The loci related to non-syndromic HGF have been identified on chromosome 2 (GINGF, GINGF3), chromosome 5 (GINGF2), chromosome 11 (GINGF4), and 4 (GINGF5). Of these loci, pathogenic variants of the SOS-1 and REST genes inducing HGF have been identified in the GINGF and the GINGF5, respectively. Furthermore, among the top 10 clusters of genes ranked by enrichment score, ATP binding, and fibronectin encoding genes were proposed as related to HGF. Conclusion The analysis of clinical reports as well as translational genetic studies published since the late’90s indicate the clinical and genetic heterogeneity of non-syndromic HGF and point out the importance of genetic studies and bioinformatics of more numerous unrelated families to identify novel pathogenic variants potentially inducing HGF. This strategy will help to unravel the molecular  mechanisms as well as uncover specific targets for novel and less invasive therapies of this rare, orphan condition.

Summary Objectives The aim of this study was to evaluate characteristics of patients with unilateral transmigration of a mandibular canine in the largest study group presented until now. Materials and methods The study group consisted of 93 patients with unilateral transmigration of mandibular canine; the control group included 85 non-affected patients. Type of transmigration, status of deciduous and permanent canines, prevalence of missing teeth, class of occlusion, and space conditions were assessed to draw comparisons between groups. Results In this study, 64.5 per cent patients presented type 1 of transmigration; types 2, 3, 4, and 5 were present in, respectively, 23.7, 5.4, 4.3, and 2.1 per cent patients. There was a clear, statistically significant difference (P < 0.0001) between the mean crown and apex migration and angulation for the three groups of canines (transmigrated, contralateral, and control), whereas no differences were observed for the total number of permanent teeth present. In the study group, 73.1 per cent patients retained their primary canine on the affected side and 18.3 per cent on the contralateral side; in the control group, 22.3 per cent subjects had at least one primary canine. There was a statistically significant difference in the distribution of types of malocclusion between the study and the control groups. Conclusions Transmigration of mandibular canine was associated with the presence of retained primary canine on the affected side, higher mesial tilting of contralateral mandibular canine when compared to the canines in the control group. Additionally, higher prevalence of Angle’s Class I occlusion in patients with canine transmigration was recorded.