Amelogenesis imperfecta and unusual gingival hyperplasia

BACKGROUND: Amelogenesis imperfecta (AI) is a group of hereditary conditions that primarily involves the defective formation and/or calcification of enamel. The association of AI with gingival enlargement-like lesions has also been reported. METHODS: This paper reports a case of a hypoplastic AI associated with unusual generalized gingival hyperplasia. RESULTS: Histological aspect of the gingival growth was characterized by a dense connective tissue with a mild mononuclear inflammatory infiltrate, calcified bodies, and islands of odontogenic epithelium. CONCLUSION: The present case represents a very interesting demonstration of the fact that, although rare, AI may be associated with generalized gingival enlargement.     

Hereditary gingival fibromatosis: a systematic review

Generalized gingival enlargement can be caused by a variety of etiological factors. It can be inherited (hereditary gingival fibromatosis [HGF]); associated with other diseases characterizing a syndrome; or induced as a side effect of systemic drugs, such as phenytoin, cyclosporin, or nifedipine. HGF, previously known as elephantiasis gingivae, hereditary gingival hyperplasia, and hypertrophic gingiva, is a genetic disorder characterized by a progressive enlargement of the gingiva. This review will focus on diagnosis, treatment, and control of HGF. The pattern of inheritance, the histopathologic characteristics, and the known biologic and genetic features associated with HGF are also emphasized.     

Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome

BACKGROUND: Gingival fibromatosis is a rare condition characterized by a generalized enlargement of the buccal and lingual aspects of the attached and marginal gingiva. METHODS: This case report describes the periodontal management of a 13-year-old female patient with gingival fibromatosis associated with Zimmermann-Laband syndrome. The patient presented with gingival enlargement involving the maxillary and the mandibular arches, anterior open bite, and non-erupted teeth. Periodontal treatment included gingivectomy in all four quadrants. RESULTS: Histopathologic evaluation of the excised tissue supported the diagnosis of gingival fibromatosis. A significant improvement in esthetic appearance and eruption of the non-erupted teeth were obtained. The patient was referred for appropriate orthodontic treatment and has been closely followed for the earliest signs of recurrence of gingival enlargement. CONCLUSIONS: The successful therapy for gingival fibromatosis depends on correctly identifying the etiological factors and improving the impaired function and esthetic appearance through surgical intervention and adjunctive orthodontics. Maintaining treatment results depends on preservation of periodontal health.     

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.     

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.     

Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family

A rare syndrome associating amelogenesis imperfecta (AI) with nephrocalcinosis has been reported. The purpose of this study is to characterise the phenotype of a consanguineous family presenting amelogenesis imperfecta, delayed permanent teeth eruption and nephrocalcinosis. Six family members were examined. Ground sections of the case index deciduous teeth and biopsies of enlarged dental follicles were analysed. The patients's parents were first cousins. The case index had yellow discoloration and altered teeth shapes, retention of deciduous teeth, and delayed eruption. Panoramic radiographs revealed multiple enlarged pericoronal follicles in unerupted teeth and generalised intrapulpal calcifications. Renal ultrasound showed the presence of nephrocalcinosis. No other family members presented enamel defects or nephrocalcinosis. Histologically, the enamel appeared hypoplastic, and dental follicles indicated pericoronal hamartoma. The consanguineous marriage suggests an autosomal recessive mode of inheritance. Further studies are necessary to clarify the genetic defect behind this syndrome that associates AI, nephrocalcinosis and impaired tooth eruption.     

Hereditary gingival fibromatosis--a review

Hereditary gingival fibromatosis (HGF) is a rare gingival lesion that presents as localized or generalized enlargement of the attached gingiva. The gingiva is characterized as pink, firm, and very fibrous, with little tendency to bleed. HGF can present as an isolated feature or as part of a syndrome. Recent findings report a defect in the Son of sevenless-1 gene on chromosome 2p21-p22 (HGF1) as a possible cause of this clinical presentation. HGF inheritance is transmitted through both autosomal dominant and recessive modes. While clinicians disagree on the modalities and timing of treatment for HGF, the clinical condition generally requires repeated resective periodontal surgical procedures over the patient's lifetime. This article reviews differential diagnosis, etiology, complications, and treatment of HGF.     

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.     

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 gingiva (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. Key words:Gingival fibromatosis, integrin alpha2, heat shock protein Hsp47.     

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.     

Gingival fibromatosis and significant tooth eruption delay in an 11-year-old male: a 30-month follow-up

This case report describes the dental management of an unusual case of idiopathic gingival fibromatosis with multiple impacted primary teeth, and the absence of eruption of permanent teeth, in an 11-year-old boy and at the 30-month follow-up. The patient presented with severely enlarged gingival tissues affecting both arches and multiple retained and non-erupted primary teeth. He had already been subjected to localized gingivectomies at the ages of 7 and 9 years. He had no known syndrome and there was no family history of any similar disorder. The patient was treated under general anaesthesia to remove the excessive gingival tissues using apically positioned flaps. During the surgical procedure, over-retained and unerupted impacted primary teeth were extracted in order to facilitate the eruption of the permanent successors. Two years postoperatively, there was no recurrence of the gingival enlargement. Overdentures were then constructed because none of the permanent teeth had yet erupted. Furthermore, pre-eruptive coronal resorption was detected radiographically affecting the crown of the unerupted 36. Thirty months postoperatively, no recurrence of gingival enlargement was seen, but the permanent teeth had still not erupted.     

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.     

Contiguous enlarged dental follicles with histologic features resembling the WHO type of odontogenic fibroma

Defective odontogenesis and/or retarded eruption of teeth can be associated with histologic features akin to odontogenic fibroma in the dental follicles. Unerupted mandibular premolar and molar teeth of a 24-year-old man were surgically exposed, yet the teeth failed to erupt. About a year and a half later, radiographs indicated further enlargement of the follicle of the premolar, and both teeth were subsequently surgically removed. Histologically, the follicles were composed of mature collagenous tissue among which epithelial islands and numerous clusters of calcified bodies were present. Indirect immunofluorescence showed positive staining for type I and type III collagen, which exhibited a sparse distribution, but not for the aminoterminal propeptide of type III procollagen. The hamartomatous nature of the lesions is discussed with emphasis on their histologic resemblance to the WHO type of odontogenic fibroma.     

Idiopathic gingival fibromatosis: a review of the literature and a case report

Gingival fibromatosis is characterized by localized or generalized fibrous enlargement of the gingivae, mainly around permanent teeth. Gingival fibromatosis affects only the masticatory mucosa and does not extend beyond the muco-gingival junction. This article describes an unusual case of idiopathic gingival fibromatosis with delayed eruption of permanent teeth in an 8 year-old boy. The pathogenic mechanisms that bring about gingival fibromatosis are discussed.     

Diagnosis and treatment of a hereditary gingival fibromatosis case

Hereditary gingival fibromatosis (HGF) is a rare condition characterised by severe gingival hyperplasia, which could result in serious aesthetic and emotional problems and functional impairment. Here the present authors report a case of a 28-year-old female patient with generalised severe gingival enlargement covering almost all of the teeth and diagnosed as HGF. Her family history was of significance, since her father and 3-year-old daughter suffered from the same symptoms. Many studies have agreed that surgical removal should be used in the treatment of HGF, and gingivectomy is the most common method. This study tried both external and internal bevel incisions. The results suggest that the former is better for shaping gingival contour, if the attached gingiva is adequate. Correct physiological contour of the marginal gingiva, good oral hygiene and periodic recall can decrease recurrence risk. Post-surgical follow-up after 26 months demonstrated no recurrence and the patient was satisfied with her appearance.     

Zimmermann–Laband syndrome with bilateral developmental cataract – a new association?

An unusual case of Zimmermann-Laband syndrome in a young male child with an unreported association of bilateral developmental cataract is presented. The pathognomonic triad of gingival fibromatosis, aplastic or hypoplastic distal phalanges with absent nails, and enlargement of soft tissues of the face were obvious, besides the known moderate learning disability and mild hearing loss. The case is discussed in the light of relevant literature. To the best of our knowledge, this is the first report of early developmental cataracts in association with the Zimmermann-Laband syndrome. Besides detection and timely recognition of the syndrome to allow adequate dental care, ophthalmic screening at periodic intervals is merited to improve the overall quality of life for these patients.     

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.     

Gingival fibromatosis combined with cherubism and psychomotor retardation: a rare syndrome

Gingival fibromatosis is frequently an isolated condition, but rarely associated with some uncommon syndromes. This paper describes an 11-year-old patient with pronounced gingival enlargement, cherubic facial appearance, and psychomotor retardation and discusses the major aspects of the case. The most striking finding orally was the presence of grossly hyperplastic gingiva, which completely covered all teeth except the occlusal surfaces of some teeth. The swelling in the lower part of the face and the appearance of sclera beneath the iris suggest cherubism. The diagnosis was confirmed by the detection of giant cell regenerative granuloma and perivascular eosinophilic particles and osteoclasts after biopsy of the mandible. In this case, surgery was the only effective way to treat the patient. A full-mouth gingivectomy procedure was performed under general anesthesia in 2 stages. The case was followed for 12 months and no recurrence was seen. An appropriate oral hygiene regimen was established.     

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.     

Hereditary gingival hyperplasia associated with amelogenesis imperfecta: a case report

Hereditary gingival fibromatosis (HGF) and amelogenesis imperfecta (AI) are two rare oral conditions with genetic etiologies. The case of a 17-year-old boy affected by HGF, AI, anterior open bite, and pyramidal impaction of the maxillary molars is reported. Internal bevel gingivectomies were carried out to reduce gingival overgrowth. Clinical examination of the family revealed the presence of HGF and AI in his 12-year-old sister (both in milder forms) and of HGF in his older half brother. Genetic sequencing analyses were performed to detect any of the known mutations leading to HGF and AI. Histologic analysis revealed the presence of fibroepithelial hyperplasia, consistent with a diagnosis of GF. Sequencing genetic analysis failed to identify any of the common mutations leading to HGF (SOS-1) or AI (enamelin and amelogenin genes). This phenotype, similar to what has been described in other families, may represent a new syndrome caused by an as-yet unknown genotype.