Treatment and long-term follow-up of a patient with hereditary gingival fibromatosis: a case report

This report addresses the complex nature of oral diagnosis, treatment and long-term case management in the hereditary form of recurrent gingival fibromatosis. Case management is discussed in relation to a 13-year-old girl who presented with recurrent, progressive gingival enlargement requiring consecutive periodontal and orthodontic treatment. The initial course of treatment included 4-quadrant gingivectomy with reverse bevel incisions, followed by orthodontics. Microscopic examination of the gingivectomy specimens supported the clinical diagnosis. Three years later, recurrence of the condition was observed in all quadrants. To facilitate orthodontic tooth movement and to achieve optimal esthetics, another full-mouth gingivectomy was performed. There was no recurrence of the condition a year later. It is recommended that patients with this condition be monitored closely after gingivectomy, so that the treatment requirements of localized areas can be addressed as needed.     

Hereditary gingival fibromatosis associated with generalized aggressive periodontitis: a case report

BACKGROUND: Hereditary gingival fibromatosis is a rare, genetically inherited overgrowth condition that is clinically characterized by a benign fibrous enlargement of maxillary and mandibular keratinized gingiva. A syndromic association between gingival fibromatosis and a wide variety of other genetically inherited disorders has been described. However, its coexistence with aggressive periodontitis has not been reported. METHODS: A 24-year-old African-American female, patient (proband X, [Px]) reported with a chief complaint of tooth mobility and gingival enlargement. Clinical examination revealed moderate to severe gingival overgrowth on both mandible and maxilla. Generalized attachment loss and mobility of the teeth were observed. Radiographic evaluation demonstrated severe alveolar bone loss. The patient was diagnosed with gingival fibromatosis and aggressive periodontitis based on the clinical and radiographic findings. Her brother (Bx) and her mother (Mx) were evaluated and diagnosed with gingival fibromatosis suggesting that this is a dominant trait in the family and gingival fibromatosis might be of hereditary origin. In addition, the brother also exhibited localized aggressive periodontitis. Medical history revealed no other systemic or local contributory factors associated with the oral findings in any of the subjects. RESULTS: Surgical therapy included internal bevel gingivectomy combined with open flap debridement procedures for Px and Bx. Only internal bevel gingivectomy was performed for Mx since there was mild bone resorption and no intrabony defects. At the time of surgery, gingival biopsies were obtained and fixed in 4% paraformaldehyde. Multiple serial sections were stained with hematoxylin and eosin. Microscopic evaluation of the gingival specimens revealed large parallel collagen bundles associated with scarce fibroblasts in the connective tissue. The collagen bundles reached into the subepithelial connective tissue where elongated rete-pegs were also observed. Following the completion of the treatment, no signs of recurrence or bone resorption were observed over 2-year follow-up. CONCLUSIONS: This is the first report of hereditary gingival fibromatosis associated with aggressive periodontitis. Combined treatment comprising removal of fibrotic gingival tissue and traditional flap surgery for the elimination of intrabony defects represents a unique treatment approach in periodontal therapy. Two-year follow-up revealed that both the gingival overgrowth and the destructive lesions were successfully treated.     

Current concepts on gingival fibromatosis‐related syndromes

Gingival fibromatosis is a rare, benign, slowly‐growing fibrous overgrowth of the gingiva, with great genetic and clinical heterogeneity. Gingival fibromatosis/overgrowth can be inherited as an isolated trait (hereditary gingival fibromatosis) and/or as a component of a syndrome, or it can be drug induced. As a clinical manifestation of a syndrome, gingival fibromatosis is usually associated with generalized hypertrichosis, mental retardation, or epilepsy. Gingival fibromatosis and its related syndromes are mainly inherited in an autosomal‐dominant manner, but autosomal‐recessive inheritance has also been reported. Clinical syndromic presentation includes Zimmermann–Laband syndrome, Ramon syndrome, Rutherford syndrome, Cowden syndrome, Cross syndrome, Göhlich–Ratmann syndrome, Avani syndrome, and I‐cell disease. However, a phenotypic overlap has been suggested, as many combinations of their systemic manifestations have been reported. Treatment of choice is usually gingivectomy with gingivoplasty. Before any therapy, clinical practitioners must take into consideration the clinical course of a particular syndrome and every possible functional and esthetic disorder.     

常染色体显性遗传性牙龈纤维瘤病的临床和遗传学特点分析

目的：探讨遗传性牙龈纤维瘤病(HGF)的临床表型和遗传学特点。方法：先证者法收集5个HGF家系并进行问卷和口腔检查，观察不同家系及同一家系不同个体的临床表型和发病特点，分析可能的遗传方式，绘制系谱图。结果：所有家系符合常染色体显性非综合征型HGF特征，发病年龄在牙齿萌出期，患者均有典型的牙龈增生，但不同个体其增生范围和严重程度有明显差异。龈切术可极大地恢复口腔功能和颜面外形，但部分病例在术后有复发倾向。结论：收集的5个家系均为非综合征型常染色体显性遗传HGF，且疾病外显率高，表现度变异大。     

Hereditary gingival fibromatosis: a case report

BACKGROUND/AIMS: Hereditary gingival fibromatosis is characterized by various degrees of attached gingival overgrowth. It usually develops as an isolated disorder but can be one feature of a syndrome. A case of a 38-year-old female is reported who presented a generalized severe gingival overgrowth, involving the maxillary and mandibular arches and covering almost all teeth. The clinical differential diagnosis included drug-induced overgrowth as well as idiopathic gingival fibromatosis. TREATMENT: Excess gingival tissue was removed by conventional gingivectomy. As the gingival enlargement was generalized to all quadrants, on both sides, the surgery was carried out under general anaesthesia. The postoperative course was uneventful and the patient's appearance improved considerably. Post-surgical follow-up after 20 months demonstrated a slight recurrence CONCLUSIONS: Hereditary gingival fibromatosis is a rare disorder characterized by the proliferative fibrous overgrowth of the gingival tissue. Resective surgery of the excess tissue is the treatment available. However, recurrence is a common feature.     

Periodontal treatment of two siblings with juvenile hyaline fibromatosis

BACKGROUND AND AIM: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive disease that presents with multiple subcutaneous nodular tumours, gingival fibromatosis, flexion contractures of the joint and hyaline material accumulation in extracellular area. Recently, the causative gene for JHF, capillary morphogenesis protein 2 (CMG2) was identified. In this case report, periodontal status, treatment and follow-up together with histopathologic evaluation of gingival tissue specimens and mutation screening of two JHF cases are presented. CASE REPORTS: A 10-year-old female (case 1) and her 3-year-old brother (case 2) were first examined in our department with a complaint of gingival hyperplasia in 1991. Symptoms of the disease were detected in two of four siblings in the family. Several gingivectomy operations were carried out over 11 years with hygiene motivation and initial phase therapy. After the last gingivectomy operation in 2002, the patients were reviewed frequently. RESULTS AND CONCLUSIONS: Although there was linear marginal gingival inflammation, no remarkable enlargement was noted at last appointment. Histopathological findings showed increased amounts of subepithelial nodular connective tissue, thinned epithelial mucosa, separated inter-cellular bridges and decreased numbers of connective tissue cells in gingival tissue samples. Electron microscopic examinations supported the histopathological findings. Mutation screening of CMG2 demonstrated that the siblings were homozygous for a pathogenic missense mutation, V386F. Our clinical findings demonstrate that gingivectomy is useful and frequent periodontal visits are important for maintaining oral hygiene and decreasing growth rate of gingiva in JHF.     

Idiopathic gingival hyperplasia and orthodontic treatment: a case report

There are many reasons for gingival hyperplasia. Mostly, proper oral hygiene is sufficient to achieve normal healthy gingiva. In some situations, however, gingival hyperplasia is drug-induced or can be a manifestation of a genetic disorder. In the latter, it may exist as an isolated abnormality or as part of a syndrome. If orthodontic treatment is needed in patients with gingival hyperplasia, both orthodontic and periodontal aspects need to be considered. Extreme hereditary gingival fibromatosis was periodontally treated, by removal of all gingival excess using flaps and gingivectomies. After a follow-up period, the orthodontic treatment started with fixed appliances. Monthly periodontal check-ups (scaling and polishing) were scheduled to control the gingival inflammation. After the orthodontic treatment, permanent retention was applied, once more followed by a complete gingivectomy in both maxilla and mandible. One of the most important keys to successful treatment of hyperplasia patients is the cooperation between the periodontist and the orthodontist.     

Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology

Our aim is to describe a family with a nonsyndromic form of hereditary gingival fibromatosis (HGF) and discuss genetic characteristics of this rare disease by reviewing reported cases. A mother and three descendants were diagnosed with HGF. There was marked variable expressivity: from severe generalized gingival overgrowth in a 16-year-old boy (the proband) to minimal manifestations in the mother. The proband was submitted to gingivectomy and gingivoplasty. In younger siblings, the disease remained stable for 5 years, suggesting that clinical surveillance is a good option. The diagnosis was supported by histopathological examination. Analysis of this family and literature-reported cases supports that HGF most frequently shows an autosomal dominant inheritance with high penetrance and variable expressivity. Neomutations and gonadal mosaicism do not seem to be a rare event. Although five loci have been mapped by linkage analysis, only two genes, SOS1 and REST, were identified in four families.     

Laser-assisted gingivectomy in pediatric patients: a novel alternative treatment

Gingival enlargement is quite a common pathology in pediatric patients and may be inflammatory, noninflammatory, or a combination of both. Idiopathic gingival fibromatosis, although rare, is a slowly progressive benign enlargement that affects the marginal gingiva, attached gingival, and interdental papilla. The fibromatosis may potentially cover the exposed tooth surfaces, causing esthetic and functional problems. The treatment of gingival fibromatosis is essential because it causes difficulties with mastication, speech problems, mispositioning of teeth, esthetic effects, and psychological difficulties for the patient. Traditional gingivectomy procedures have been a challenge for dentists who confront issues of patient cooperation and discomfort. In the last decade, laser procedures in oral cavity had shown many optimum effects in both hard and soft tissue procedures. Laser soft-tissue surgery has been shown to be well accepted by children. The following case report describes a laser-assisted gingivectomy procedure performed on a 13-year-old female.     

TGF-β isoforms and TGF-β receptors in drug-induced and hereditary gingival overgrowth

Drug therapy and hereditary factors are two of the main causes of gingival overgrowth (GO). Both of these forms of GO are associated with increased extracellular matrix production by fibroblasts. Transforming growth factor beta (TGF-beta) is an important mediator of wound healing and tissue regeneration, which stimulates fibroblasts to produce extracellular matrix materials. The aim of this immunohistochemical study was to determine whether there is any altered expression of TGF-beta isoforms or its receptors in tissue from patients with drug-induced GO (DIGO; n=10) and hereditary gingival fibromatosis (n=10) when compared to non-overgrowth tissue (n=10). Compared to control tissues, significantly more fibroblasts expressed TGF-beta1 in both DIGO and hereditary gingival fibromatosis tissues (P<0.03). Cells expressing TGF-beta2 were present at control levels in DIGO but were significantly reduced in hereditary gingival fibromatosis (P<0.02). By contrast, the number of TGF-beta3-positive cells was the same in overgrowth tissues and controls. However, because of differences in total fibroblast densities between groups, there was a proportional increase in TGF-beta3 as well as TGF-beta1 expressing cells within both overgrowth populations (P<0.0001). Furthermore, representation of the TGF-beta2-positive phenotype was reduced in hereditary gingival fibromatosis (P<0.01) but increased in DIGO (P<0.005) compared to controls. Absorbance measurements of the positive cell populations showed that the level of expression was significantly higher for TGF-beta1 in hereditary gingival fibromatosis (P<0.002) and significantly lower for TGF-beta3 in DIGO (P<0.03). No significant differences in the numbers of TGF-betaRI- or RII-positive cells were detected between overgrowth tissues and controls. However, there were increases in the proportion of receptor-positive cells in the total cell population analysed in overgrowth tissues (P<0.0001). These results indicate qualitative and quantitative differences in TGF-beta isoform and receptor expression by fibroblasts in gingival overgrowth that may contribute to disease pathogenesis.     

Three siblings with juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF) is an extremely rare hereditary genetic disease of autosomal recessive transmission that is characterized by large cutaneous tumors commonly involving the scalp, papulonodular skin lesions, flexural joint contractures, gingival hyperplasia, and osteolytic bone lesions. JHF is usually diagnosed in young infants and in children younger than 5 years, and the lesions characteristic of this disorder consist of fibrous tissue and homogenous amorphous eosinophilic hyaline material. We report the case of a 9-year-old girl with severe gingival hyperplasia, nasal enlargement, mild osteoporosis, and multiple papulonodular skin lesions. Her two brothers (7 and 13 years of age, respectively) were also diagnosed as having JHF. In the patient described in this report, the maintenance of oral hygiene after gingivectomy enabled the continued resolution of gingival hyperplasia, although skin lesions recurred and nasal overgrowth persisted.     

遗传性牙龈纤维瘤病1例

遗传性牙龈纤维瘤病是一种罕见的以牙龈组织缓慢、渐进性增生为主要特征的良性病变。本文对1例遗传性牙龈纤维瘤病的临床检查、病史进行报道,并结合文献对其进行讨论。     

Familial gingival fibromatosis: report of a case

One family of familial gingival fibromatosis was presented. Case 1 is an 11 years old girl. Gingival fibromatosis was noted by delayed eruption of permanent teeth. Fibromatosis was seen in whole gingiva and lower 1/2 to 1/3 of the tooth crowns was covered. Gingivectomy was performed. Case 2 was 42 years old man, who was father of case 1. Firstly gingival swelling was noted at the age of 10 years. He had operations of gingivectomy at the age of 28 years. It recurred and fibromatosis was seen in whole gingiva and lower 1/2 to 1/3 of the tooth crowns was covered. Cytogenetically no abnormality was seen in the chromosomes of both cases. Reported cases of familial and non-familial gingival fibromatosis in Japan were reviewed.     

A case of Zimmermann-Laband syndrome with supernumerary teeth

BACKGROUND: Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly. METHODS: This case report describes the clinical presentation and periodontal findings in a 13-year-old female patient with previously undiagnosed Zimmermann-Laband syndrome. RESULTS: Clinical and radiographic findings and genetic counseling confirmed the diagnosis of Zimmermann-Laband syndrome. The most striking oral findings were the presence of gingival enlargement involving both the maxillary and mandibular arches, anterior open bite, non-erupted teeth, and two supernumerary teeth. Periodontal treatment consisted of gingivectomy in four quadrants. Histopathologic evaluation of excised tissue supported the diagnosis of gingival fibromatosis. The patient was referred for appropriate orthodontic treatment and genetic counseling, and has been closely followed for the earliest signs of hepatosplenomegaly. CONCLUSIONS: Dental practitioners should be alert for developmental abnormalities that may occur in patients with gingival fibromatosis as this may indicate the presence of a rare disorder like Zimmermann-Laband syndrome. A comprehensive medical history and physical systemic evaluation are essential for correct diagnosis and treatment of these cases.     

Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family

BACKGROUND: Gingival fibromatosis (GF) is characterized by fibrotic enlargement of the gingiva that can be inherited as an isolated trait (named hereditary gingival fibromatosis) or as a component of a syndrome. This article reports one kindred affected by a syndrome characterized by GF associated with dental abnormalities (DA) including generalized thin hypoplastic amelogenesis imperfecta (AI). METHODS: To characterize the pattern of inheritance and the clinical features, 70 family members were examined. Hematoxylin and eosin staining, immunohistochemistry, and scanning electronic microscopy (SEM) were performed to identify the alterations on gingiva, teeth, and dental follicles. RESULTS: Examination of the family pedigree demonstrated multiple consanguineous first-cousin marriages and an autosomal recessive trait of inheritance. Four members demonstrated mild GF in association with DA, including generalized thin hypoplastic AI, intrapulpal calcifications, delay of tooth eruption, and pericoronal radiolucencies involving unerupted teeth. One of those four patients also had mental retardation (MR). MR as an isolated feature was observed in six members, whereas isolated GF was found in one individual. A combination of gingivectomy and gingivoplasty followed by regular dental procedures were performed in these patients. Histologic examination of the gingival enlargement revealed a dense connective tissue containing myofibroblasts, islands of odontogenic epithelium, and calcified psammomatous deposits, which resembled cementicle-like structures by SEM. Pericoronal lesions also showed calcified psammomatous deposits in association with islands of odontogenic epithelium. Enamel ultrastructure analysis revealed normal surface alternating with irregular and porous areas. CONCLUSION: To the best of our knowledge, these cases represent a new syndrome within the spectrum of those including GF.     

Idiopathic gingival fibromatosis: a case report

A rare case of large idiopathic gingival fibromatosis of right maxilla and mandible with extensive osseous destruction is presented. Following examination and definitive diagnosis the patient was treated by gingivectomy and tooth extraction. A denture was substituted at a subsequent time. The patient has been followed for a period of 1 year with satisfactory results.     

The potential use of CO2-laser ginagivectomy for phenytoin-induced gingival hyperplasia in mentally retarded patients

Abstract Patients with hyperplastic states of the gingiva, i.e., phenytoin hyperplasia, nifedipine hyperplasia. cyclosporin hyperplasia, gingival fibromatosis and others may be treated by laser gingivectomy as no bone surgery is involved in these cases. Patients who are mentally retarded may represent special care problems postoperatively after conventional surgical gingivectomy i.e., unintentional removal of surgical dressing, postoperative bleeding etc. Therefore, the potential use of CO₂-laser gingivectomy for mentally retarded persons was evaluated in a prospective study comprising 15 patients with fenytoin hyperplasia of the gingiva. No intra- or postoperative bleeding occurred and no surgical dressing was applied. The majority of the patients did not need any analgesics postoperatively. Healing was uncomplicated and the time needed for healing was of the same order of magnitude as after surgical gingivectomy.     

Hereditary gingival fibromatosis: report of a five-generation family using cellular proliferation analysis

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: Clinical and ultrastructural features of a new family

Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial patient with a mutation), which was transmitted to her daughter through an autosomal dominant mode of inheritance. The affected patients showed a generalized gingival overgrowth. The patient was treated with surgical procedures of gingivectomy and gingivoplasty. The diagnosis was confirmed by histopathology examination that showed a well-structured epithelium with elongated and thin papillae inserted in fibrous connective tissue with increased amount of collagen. The ultrastructural aspects of the tissue show collagen fibrils exhibiting their typically repeating banding pattern with some fibrils displaying loops at their end. Moreover, it was possible to seen in some regions fibrillar component presenting tortuous aspects and loss of the alignment among them. Conclusions: This HGF frequently resulted in both esthetic and functional problems. The genetic pattern of this Brazilian family suggested a new mutation, which was later transmitted by an autosomal dominant trait. Key words:Gingival fibromatosis, genetic disease, pedigree, ultrastructure.     

Management of idiopathic gingival fibromatosis: report of a case and literature review

Gingival hyperplasia is a rare condition and is of importance for cosmetic and mechanical reasons. Idiopathic gingival fibromatosis, a benign, slow-growing proliferation of the gingival tissues, is genetically heterogeneous. The enlargement is most intense during the eruption of the primary and permanent teeth, and minimal or nondetectable growth is observed in adults. The genetic aspect, clinical feature, histopathology, immunohistochemistry, and treatment aspects are reviewed. The purpose of this paper was to report a case of idiopathic gingival fibromatosis in a 13-year-old female who had a negative family history for a similar type of gingival enlargement. The diagnosis was established through history, clinical examination, and histopathology using both hematoxylin and eosin and Van Giesen stain (a special stain for collagen). Surgical treatment, which included both gingivectomy and gingivoplasty, was carried out. The case showed remarkable esthetic and functional improvement. The patient returned after a year and showed no recurrence.