Clinical and histomorphometric characteristics of three different families with hereditary gingival fibromatosis (original) (raw)
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Journal of Periodontology, 2005
Background: Hereditary gingival fibromatosis (HGF) is an uncommon condition characterized by an accumulation of extracellular matrix resulting in a fibrotic enlargement of the gingiva. The goal of this article is to describe one kindred affected with HGF and discuss the diagnosis, treatment, and control of the disease. The pattern of inheritance, histopathologic characteristics, and proliferative potential of epithelial and mesenchymal cells of HGF are also emphasized. Methods: To characterize the pattern of inheritance and the clinical appearance of gingival overgrowth, 117 family members were examined. The recurrence risk was estimated by the use of a genetic analysis program. Immunohistochemistry against the proliferating cell nuclear antigen (PCNA) and pKi-67 was performed to assess cellular proliferation of normal gingiva (NG) and HGF cells. Results: Examination of the family pedigree demonstrated an autosomal dominant trait of inheritance, and a sibling recurrence risk of 0.085 and an offspring recurrence risk of 0.078, indicating that HGF was a consequence of genetic alteration with low penetrance. Unaffected and affected members transmitted the disease to their offspring. The affected patients showed a generalized but mild gingival overgrowth. Surgical treatment consisted of a combination of gingivectomy and gingivoplasty. Histologic examination showed that the gingival lesions of all patients were quite similar, with increased amounts of collagen fiber bundles in the connective tissue. Immunohistochemistry revealed that the proliferative potential of epithelial cells was significantly higher in the HGF group compared to the NG group, whereas mesenchymal cells from both groups were negative for the proliferative markers. Conclusion: Our data demonstrated that, in the studied family, HGF is transmitted by an autosomal dominant pattern with incomplete disease penetrance, and although the gingival enlargement resulted from an excessive accumulation of collagen fibers, HGF is characterized by an increase in the proliferation rate of epithelial cells.
Hereditary gingival fibromatosis: Report of four generation pedigree
International Journal of Case Reports and Images, 2011
Introduction: Gingival enlargement is defined as an overgrowth or increase in size of gingivae. Gingival enlargement is associated with multiple factors including inflammation, medications, neoplasia, hormonal disturbances and rarely heredity. Hereditary gingival fibromatosis (HGF) is a rare gingival lesion (1 in 7,50,000) that presents as localized or generalized fibrotic enlargement of the attached gingivae as well as the gingival margin and interdental papillae. The gingiva is characterized as pink, firm and fibrous, with little tendency to bleed. It causes aesthetic disfigurement, speech disturbances, abnormal tooth movement and dental occlusion problems. HGF can present as an isolated feature or as a part of the syndrome. HGF inheritance is transmitted through both autosomal dominant and recessive modes. Case Series: This report presents hereditary gingival fibromatosis in a family, described with multiple affected subjects in four generations, consistent with an autosomal dominant mode of inheritance. Conclusion: It is a unique report of pedigree presenting gingival enlargement in four generation. Very few papers are published previously on this topic. Like other reported family, in current family variable expression of HGF was seen because most of the affected persons had generalized gingival enlargement while some had localized involvement.
The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
Case Reports in Dentistry, 2013
Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate the autosomal recessive inheritance pattern of HGF. Hereditary gingival fibromatosis is an idiopathic condition as its etiology is unknown and it was found to recur in some cases even after surgical treatment. Both patients underwent thorough oral prophylaxis and later surgical therapy to correct the deformity.
Study About Hereditary Gingival Fibromatosis and Its Impact on Dental Treatment
2019
Introduction: Gingival Fibromatosis orGingival Hyperplasia is a rare disorderwith slow and progressive growth andis characterized by being a neoplasm inthe gingival tissue, where it can be foundin a localized manner. This study aimsto elucidate the characteristics and possiblemanifestations, aiming to facilitateits identifi cation, treatment and control.Methodology: This is a literature review.Forty-two articles and theses with languagesin English, Spanish, French, and Portuguesewere researched, whose sourcesare Scielo and Pubmed, and 25 articleswere included for their relevance to thetopic. Literature review: Gingival fi bromatosisis a clinical manifestation presentin several genetic syndromes that canlead to a craniofacial involvement that ischaracterized by the expansion and accumulationof connective tissue with increasednumber of cells and collagen fi bers.Fibromatosis has a proliferation of well-differentiated fi broblasts with varying amountsof collagen between proliferating c...
Evidence of Genetic Heterogeneity for Hereditary Gingival Fibromatosis
Journal of Dental Research, 2000
Hereditary Gingival Fibromatosis (HGF) is the most common genetic form of gingival fibromatosis. The condition is most frequently reported to be transmitted as an autosomal-dominant trait, but autosomal-recessive inheritance has also been reported. The clinical presentation of HGF is variable, both in the distribution (number of teeth involved) and in the degree (severity) of expression. It is unknown if the variable clinical expression of HGF in different families is due to variable expression of a common gene mutation, allelic mutations, or non-allelic mutations. The apparently different modes of Mendelian inheritance of HGF suggest genetic heterogeneity. A gene locus for HGF has been localized to a 37-cM genetic interval on chromosome 2p21-p22 (D2S1352, Zmax = 5.10, theta = 0.00) flanked by D2S1788 and D2S441. To evaluate the generality of this linkage, we tested linkage with 9 markers from this candidate region in another large family, segregating for an autosomal-dominant form of generalized HGF, and found no support for linkage with any of these markers. Furthermore, statistical tests of this apparent heterogeneity were highly significant. Analysis of these data provides direct evidence that at least two genetically distinct loci are responsible for autosomal-dominant hereditary gingival fibromatosis.
Hereditary Gingival Fibromatosis: A Report of a Severe Case
Cureus, 2022
Hereditary gingival fibromatosis (HGF) is an uncommon condition characterized by a benign, local, or diffuse gingival overgrowth. It may cover the teeth partially or totally, causing essential aesthetic, phonetic, and masticatory disorders. In this report, we discuss a case of an 11-year-old boy who presented with severe gingival enlargement. The diagnosis of HGF was made based on clinical examination and family history, with two of the patient's brothers and his paternal aunt being affected with the same disease. The patient was managed with electrosurgery under general anesthesia.
Gingival fibromatosis: clinical, molecular and therapeutic issues
Orphanet Journal of Rare Diseases, 2016
Gingival fibromatosis is a rare and heterogeneous group of disorders that develop as slowly progressive, local or diffuse enlargements within marginal and attached gingiva or interdental papilla. In severe cases, the excess tissue may cover the crowns of the teeth, thus causing functional, esthetic, and periodontal problems, such as bone loss and bleeding, due to the presence of pseudopockets and plaque accumulation. It affects both genders equally. Hereditary, drug-induced, and idiopathic gingival overgrowth have been reported. Hereditary gingival fibromatosis can occur as an isolated condition or as part of a genetic syndrome. The pathologic manifestation of gingival fibromatosis comprises excessive accumulation of extracellular matrix proteins, of which collagen type I is the most prominent example. Mutation in the Son-of-Sevenless-1 gene has been suggested as one possible etiological cause of isolated (non-syndromic) hereditary gingival fibromatosis, but mutations in other genes are also likely to be involved, given the heterogeneity of this condition. The most attractive concept of mechanism for drug-induced gingival overgrowth is epithelial-to-mesenchymal transition, a process in which interactions between gingival cells and the extracellular matrix are weakened as epithelial cells transdifferentiate into fibrogenic fibroblast-like cells. The diagnosis is mainly made on the basis of the patient's history and clinical features, and on histopathological evaluation of affected gingiva. Early diagnosis is important, mostly to exclude oral malignancy. Differential diagnosis comprises all pathologies in the mouth with excessive gingival overgrowth. Hereditary gingival fibromatosis may present as an autosomal-dominant or less commonly autosomal-recessive mode of inheritance. If a systemic disease or syndrome is suspected, the patient is directed to a geneticist for additional clinical examination and specialized diagnostic tests. Treatments vary according to the type of overgrowth and the extent of disease progression, thus, scaling of teeth is sufficient in mild cases, while in severe cases surgical intervention is required. Prognosis is precarious and the risk of recurrence exists.
American Journal of Case Reports, 2016
Objective: Rare disease Background: 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.