ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome. ELMO2 biallelic pathogenic variants were also described in patients with a primary intraosseous vascular malformation (PIVM; OMIM #606893). These patients presented gingival bleeding and cherubism phenotype. Herein, a patient with gingival hypertrophy, neurodevelopmental delay, and cherubism phenotype with a novel homozygous predicted loss-of-function (LOF) variant in the ELMO2 gene and family recurrence was reported. A surgical approach to treat gingival bleeding and mandible vascular malformation was also described. Furthermore, this study includes a comprehensive literature review of molecular data regarding the ELMO2 gene. All the variants, except one described in the ELMO2, were predicted as LOF, including our patient's variant. There is an overlapping between PIVM, also caused by LOF biallelic variants in the ELMO2 gene, and Ramon syndrome, which can suggest that they are not different entities. However, due to a limited number of cases described with molecular evaluation, it is hard to establish a genotype-phenotype correlation. Our study supports that LOF pathogenic biallelic variants in the ELMO2 gene cause a phenotype that has cherubism and gingival hypertrophy as main characteristics.

New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes.

BACKGROUND: Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition characterized by slow but progressive fibrous, non-hemorrhagic, and painless growth of the gingival tissues due to the increased deposition of collagen and other macromolecules of the extracellular matrix. HGF occurs in approximately 1:750,000 individuals and can exhibit dominant or recessive inheritance. To date, five loci (2p21-p22, 2p22.3-p23.3, 4q12, 5q13-q22, and 11p15) and three genes [REST (RE1-silencing transcription factor), SOS1 (Son-of-Sevenless-1), and ZNF862 (zinc finger protein 862 gene)] have been associated with HGF. Here, our study aimed to identify genetic variants associated with HGF by applying whole-exome sequencing (WES) and bioinformatics analyses. METHODS: Thirteen Brazilian individuals with HGF and nine relatives without HGF from four unrelated families were chosen for our investigation. Blood collected from the patients and their relatives were used for WES. Five Web-available tools, namely, CADD, PolyPhen, SIFT, Mutation Taster, and Franklin's algorithms, were used to predict protein damage. RESULTS: WES revealed pathogenic variants affecting the known HGF genes REST (c.1491_1492delAG) and SOS1 (c.3265_3266insTAAC) in two families. Additionally, potentially pathogenic variants segregating in the other two families were mapped to ALK receptor tyrosine kinase gene (ALK) (c.361C > T) and to collagen type I receptor and thrombospondin receptor gene (CD36) (c.1133G > T). CONCLUSION: Our findings reinforce the high genetic heterogeneity of HGF, identifying new variants in HGF known genes (REST and SOS1) and ALK and CD36 as new genes that cause HGF.

Generalized hereditary gingival fibromatosis in a child: clinical, histopathological and therapeutic aspects

Hereditary gingival fibromatosis (HGF) is a rare genetic condition characterized by slow and progressive gingival enlargement. The gingival overgrowth often delays teeth eruption and may cause serious functional and aesthetic problems. We reported a case of a 10-year-old female child presenting a generalized gingival enlargement covering almost all the maxillary and mandibular teeth and resulted in problems for swallowing, speaking, and poor aesthetics. An incisional biopsy was performed and revealed a hypocellular and hypovascular dense collagenous tissue covered by squamous epithelium exhibiting acanthosis and elongated rete ridges. The diagnosis was HGF. The treatment instituted was an association of gingivectomy with a rigorous program of oral hygiene and follow-up. Herein, we describe a rare non-syndromic case of generalized HGF, including clinical and microscopical features, as well as highlighting the importance of correct diagnosis of this genetic condition.

Immunohistochemical Analysis of Cell Proliferation and Bcl-2 Expression in Drug-Induced Gingival Overgrowth

Objective: To compare the rate of cell proliferation and expression of antiapoptotic protein Bcl-2 between drug-induced gingival overgrowth (DIGO) and clinical healthy gingiva (CHG) and to establish associations with histopathological features. Material and Methods: Twenty specimens of DIGO and 20 CHG specimens were submitted to morphological and immunohistochemical analysis by light microscopy. Cell proliferation (Ki-67) and the expression of Bcl-2 were evaluated in epithelial cells and spindle-shaped mononuclear cells of the connective tissue by establishing the labeling index (LI). Results: In epithelial tissue, the mean LI for Ki-67 was 17.2% in DIGO and 21.71% in CHG (p = 0.137). The mean LIs for Bcl-2 in epithelial tissue were 14.67% and 10.24% in DIGO and CHG, respectively (p = 0.026). In connective tissue, DIGO and CHG specimens exhibited low LIs for Ki-67 and Bcl-2, with mean values of less than 0.5% in both groups. No significant differences in the LIs for Ki-67 or Bcl-2 in epithelial tissue were observed according to the degree of collagenization, degree of vascularization and intensity of inflammatory infiltration (p > 0.05). No significant correlations were observed between the LIs for Ki-67 and Bcl-2 (p > 0.05). Conclusion: The present results suggest that the pathogenesis of DIGO does not involve increased proliferation or decreased apoptosis of fibroblasts. On the other hand, the morphological pattern of elongated epithelial cristae observed in DIGO could mainly be due to the inhibition of keratinocyte apoptosis and not to increased proliferation of these cells.

Genomic analysis of gum disease and hypertrichosis in foxes.

Since the 1940s, a proliferative gingival disease called hereditary hyperplastic gingivitis (HHG) has been described in the farmed silver fox, Vulpes vulpes (Dyrendahl and Henricson 1960). HHG displays an autosomal recessive transmission and has a pleiotropic relationship with superior fur quality in terms of length and thickness of guard hairs. An analogous human disease, hereditary gingival fibromatosis (HGF), is characterized by a predominantly autosomal dominant transmission and a complex etiology, occurring either as an isolated condition or as a part of a syndrome. Similar to HHG, the symptom most commonly associated with syndromic HGF is hypertrichosis. Here we explore potential mechanisms involved in HHG by comparison to known genetic information about hypertrichosis co-occurring with HGF, using an Affymetrix canine genome microarray platform, quantitative PCR, and candidate gene sequencing. We conclude that the mitogen-activated protein kinase pathway is involved in HHG, however despite involvement of the mitogen-activated protein kinase kinase 6 gene in congenital hypertrichosis with gingival fibromatosis in humans, this gene did not contain any fixed mutations in exons or exon-intron boundaries in HHG-affected foxes, suggesting that it is not causative of HHG in the farmed silver fox population. Differential up-regulation of MAP2K6 gene in HHG-affected foxes does implicate this gene in the HHG phenotype.

Prevalencia de lesiones benignas y desórdenes potencialmente malignos que afectan la mucosa bucal en pacientes adultos Facultad de Odontoloía UCV / Injury prevalence of benign and potencially malignant disorders affecting the mouth in patients mucosal Faculty of Dentistry UCV

Se realiza un estudio de tipo documental, retrospectivo, transversal. La población del presente estudio estuvo representada por un total de 9.000 historias diagnosticadas en el Laboratorio Central de Histopatología Bucal "Dr. Pedro Tinoco" de la Facultad de Odontología de la U.C.V., durante el período 1988-2008. La muestra evaluada quedó conformada por un total de Cuatro Mil Ciento Sesenta y Seis (4.166) casos, los cuales fueron seleccionados de manera intencional no probabilística a partir de la población antes mencionada siguiendo criterios de inclusión y exclusión. La prevalencia de Lesiones Benignas y Desórdenes Potencialmente Malignos que afectan la Mucosa Bucal es alta (46,2%) con respecto a la muestra total estudiada (9000 casos). De acuerdo al Grupo Etario observamos un intervalo de edad entre 15 y 97 años, una media de 47,3 años y Desv. Tip de 16,5 (Y ± s : 47,3 ± 16,5). En relación a la distribución por Género, en nuestro estudio existe un predominio de las lesiones de la mucosa bucal por el sexo femenino (69,7%). En base al diagnóstico clínico se identificaron 77 lesiones diferentes. El Fibroma Traumático fue la lesión más común con 1042 casos (25,01%), seguida por la Leucoplasia con 764 casos (18,33%), la Hiperplasia Fibrosa por Prótesis Dental con 447 casos (10,73%). En referencia a las diferentes localizaciones anatómicas mayormente afectadas en este estudio: el Reborde Alveolar ocupó el primer lugar (1134 casos; 27,2%), seguida por Los Carrillos (639 casos; 15,33%), Labio Inferior (522 casos; 12,5%), Encías (493 casos; 11,8%).En referencia al grado de Concordancia global entre el Diagnóstico Clínico e Histopatológico fue del 75,9 % de los casos (3.161 casos de 4.166). Situación que nos permite asumir que la concordancia global es satisfactoria.

A study of documentary, retrospective, cross. The study population was represented by a total of 9,000 stories diagnosed at the Central Laboratory of Oral Histopathology "Dr. Pedro Tinoco " in the Faculty of Dentistry at UCV, during the period 1988-2008 . The sample studied was composed of a total of Four Hundred Sixty Six Thousand (4,166 ) cases , which were selected intentionally not random from the population above following inclusion and exclusion criteria . Injury prevalence Benign and Potentially Malignant Disorders affecting Mucosa is high ( 46.2 %) compared to the total study sample (9000 cases). According to Age Group observed an age range between 15 and 97 years , an average of 47.3 years and 16.5 Desv.Tip (Y ± s : 47.3 ± 16.5). Regarding the Gender distribution in our study there is a prevalence of oral mucosal lesions in females (69.7 %). Clinical diagnoses based on 77 different lesions were identified. The Traumatic fibroma was the most common injury in 1042 patients (25.01%), followed by leukoplakia with 764 cases (18.33%), Fibrous Hyperplasia By Dental Implants with 447 cases (10.73%). Referring to different anatomical locations most affected in this study: Alveolar Flange ranked first (1134 cases , 27.2 %), followed by The Cheeks (639 cases , 15.33%), Lower Lip (522 cases; 12.5%), Gum (493 cases, 11.8%). Referring to the degree of overall concordance between the Clinical and Histopathological diagnosis was 75.9% of cases (3,161 of 4,166 cases). This situation allows us to assume that the overall agreement is satisfactory.

Fibromixoma odontogénico en el maxilar superior: reporte de un caso clínico y revisión de la literatura / Fibromixoma odontogenic in the maxilla: report of a case and literture review

El Fibromixoma Odontogénico es una variante del Mixoma Odontogénico. Se describe como una lesión intraósea agresiva derivada del tejido conjuntivo embrionario asociada con la odontogénesis1 constituida principalmente por grandes cantidades de tejido fibroso celular maduro. Su origen es controvertido, aparece en el esqueleto facial, afectando con mayor frecuencia a la mandíbula2. A continuación se presenta el caso clínico de un paciente de sexo femenino de 36 años de edad que presentó un aumento de volumen a nivel del ápice de diente 1.6 ,en la que se realizó un curetaje logrando la completa resección de la lesión, el resultado del informe patológico da el diagnóstico de Fibromixoma de origen Odontogénico

The Odontogenic Fibromyxoma is a variant of the Odontogenic Myxoma. It is described as an agressive intraoseous lesion that derives from the embrionary connective tissue associated with the odontogenesis, constituted by great amounts of celular mature fibrous tissue. It has a controverted origin, appears in the facial skeleton affecting more frecuently the mandible. We present a case of a 36 year old female who consulted with an increase of volume in relation to the 1.6 theet where we practiced a curetaje obtaining a complete resection of the lesion, the results of the patologic inform gives the diagnostic of odontogenic fibromyxoma

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

Minichromosome maintenance 2 and 5 expressions are increased in the epithelium of hereditary gingival fibromatosis associated with dental abnormalities.

INTRODUCTION: Gingiva fibromatosis is a relatively rare condition characterized by diffuse enlargement of the gingiva, which is caused by expansion and accumulation of the connective tissue. OBJECTIVE: The aim of the present study was to investigate proliferative and apoptotic biomarker expression in normal gingiva and two forms of gingival fibromatosis. METHODS: Archived tissue specimens of hereditary gingival fibromatosis, gingival fibromatosis and dental abnormality syndrome and normal gingiva were subject to morphological analysis and immunohistochemical staining. The results were analyzed statistically. RESULTS: Proteins associated with proliferation were found in the nuclei of epithelial cells from the basal and suprabasal layers, whereas apoptotic proteins were detected in the cytoplasm of the upper layers of the epithelium. Increased expressions of minichromosome maintenance proteins 2 and 5 were observed in the gingival fibromatosis and dental abnormality syndrome samples. In contrast, geminin expression was higher in normal gingiva samples. No difference in the expression of apoptotic proteins was observed among the groups. CONCLUSION: Our findings support a role for augmented proliferation of epithelial cells within the overgrown tissues associated with gingival fibromatosis or dental abnormality syndrome. However, our data suggest that different biological mechanisms may account for the pathogenesis of different types of gingival fibromatosis.

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome.

Minichromosome maintenance 2 and 5 expressions are increased in the epithelium of hereditary gingival fibromatosis associated with dental abnormalities

INTRODUCTION: Gingiva fibromatosis is a relatively rare condition characterized by diffuse enlargement of the gingiva, which is caused by expansion and accumulation of the connective tissue. OBJECTIVE: The aim of the present study was to investigate proliferative and apoptotic biomarker expression in normal gingiva and two forms of gingival fibromatosis. METHODS: Archived tissue specimens of hereditary gingival fibromatosis, gingival fibromatosis and dental abnormality syndrome and normal gingiva were subject to morphological analysis and immunohistochemical staining. The results were analyzed statistically. RESULTS: Proteins associated with proliferation were found in the nuclei of epithelial cells from the basal and suprabasal layers, whereas apoptotic proteins were detected in the cytoplasm of the upper layers of the epithelium. Increased expressions of minichromosome maintenance proteins 2 and 5 were observed in the gingival fibromatosis and dental abnormality syndrome samples. In contrast, geminin expression was higher in normal gingiva samples. No difference in the expression of apoptotic proteins was observed among the groups. CONCLUSION: Our findings support a role for augmented proliferation of epithelial cells within the overgrown tissues associated with gingival fibromatosis or dental abnormality syndrome. However, our data suggest that different biological mechanisms may account for the pathogenesis of different types of gingival fibromatosis.

Idiopathic gingival fibromatosis: description of two cases.

Gingival fibromatosis is an enlargement localized or generalized of the gingival tissue characterized by an expansion and accumulation of the connective tissue, predominantly type I collagen, with occasional presence of increased number of cells, supposed fibroblastic proliferation. Gingival fibromatosis can be induced as a side effect of systemic drugs, such as phenytoin, cyclosporin, and nifedipine, or due to hereditary factors. However, in some cases, the gingival overgrowth is idiopathic. This paper reports two cases of idiopathic gingival fibromatosis and discusses the diagnosis, histopathological features, treatment and immunohistochemical evaluation of myofibroblasts of this condition. The tissues removed were fixed in formalin, and sections used for hematoxylin and eosin and Masson tricromic stain. To determine the presence of myofibroblasts, we performed immunohistochemistry against a-SMA protein. Histological examination revealed epithelial hyperplasia with long rete pegs and increase in the dense fibrous connective tissue. The Masson tricromic stain revealed wide bundles of collagen strongly stained. It was showed negative labeling to a-SMA. These results strongly suggest that myofibroblasts are not involved in gingival overgrowth in the cases of IGF reported. Future studies will be necessary to determine the pathogenesis of idiopathic gingival fibromatosis.

Caso para diagnóstico / Case for diagnosis

Fibromatose hialina juvenil e hialinose sistêmica infantil são desordens autossômicas recessivas, raras da infância. À histologia, há depósito de material hialino na derme e subcutâneo. As características clínicas principais são: lesões pápulo-nodulares, hipertrofia gengival, contratura articular, lesões ósseas osteolíticas e retardo no crescimento. Mutações no mesmo gene foram identificadas nas duas condições, sugerindo que sejam espectros da mesma doença.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autossomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Mutations in the same gene were detected in both conditions, suggesting that they may be variants of the same disorder.

[Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis]. / Caso para diagnóstico.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Mutations in the same gene were detected in both conditions, suggesting that they may be variants of the same disorder.

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.

Clinical and histomorphometric characteristics of three different families with hereditary gingival fibromatosis.

OBJECTIVE: To examine the histomorphologic and histomorphometric features of tissue from 3 unrelated families with hereditary gingival fibromatosis (HGF). STUDY DESIGN: Twelve affected individuals from 3 HGF families and 3 control subjects were evaluated. Gingival samples were fixed in formalin and embedded in paraffin for hematoxylin and eosin stain to count the number of fibroblast and inflammatory cells. Sirius red staining was performed to quantitate the amount of collagen present. RESULTS: Histomorphologic analysis of HGF showed extension of epithelial rete ridges into the underlying lamina propria and the presence of collagen bundles in the connective tissue. Analysis of the mean area fraction of collagen showed that there were significant increases in the collagen fraction for all HGF types compared with control subjects (P < .05). There were significant increases in the number of fibroblasts for HGFa and HGFb compared with control subjects (P < .05). The number of fibroblasts for HGFc were similar to that for control subjects. CONCLUSIONS: The collagen fraction was significantly greater in all HGF types compared with controls. The number of fibroblasts was significantly increased in 2 of the 3 HGF types compared with controls. These data indicate that different mechanisms may be responsible for tissue enlargement in different forms of HGF.

Idiopathic gingival fibromatosis: a case report.

Idiopathic or hereditary gingival fibromatosis is a benign oral disorder characterized by enlargement of the oral gingival tissues. This article describes a case of a female child who exhibited a generalized gingival overgrowth in both arches at birth. Other causes of gingival overgrowth and the clinical, radiographic, and histopathologic characteristics are discussed. Treatment consisted of surgical removal of the hyperplastic fibrous tissue in a series of gingivectomies. Medical history, clinical examination, and histopathologic and genetic findings were essential to rule out other systemic abnormalities. This unusual case of nonsyndromic idiopathic gingival fibromatosis was followed for 5 years, and no recurrence was seen.

Opposite effects of TGF-beta1 and IFN-gamma on transdifferentiation of myofibroblast in human gingival cell cultures.

BACKGROUND/AIM: Previously, we have shown that myofibroblasts, the main cell type associated with interstitial fibrosis, may be implicated with the gingival overgrowth observed in hereditary gingival fibromatosis (HGF) patients. The goal of this study was to determine whether transforming growth factor-beta1 (TGF-beta1) stimulates myofibroblast generation in gingival fibroblast cultures. Moreover, we analysed how interferon-gamma (IFN-gamma) interferes in this process. MATERIAL AND METHODS: Fibroblast cultures from normal gingiva and myofibroblast cells from HGF were included in this study. To determine the effects of TGF-beta1 and IFN-gamma stimulation in these cells, the expression of the specific myofibroblast marker smooth muscle isoform of alpha-actin (alpha-SMA) was examined by semi-quantitative reverse transcriptase-polymerase chain reaction (RT-PCR), Western blot and immunofluorescence. Enzyme-linked immunosorbent assay (ELISA) for type I collagen was performed to measure the myofibroblast activity. RESULTS: Our results demonstrated that TGF-beta1 promotes a dose- and time-dependent increase in the expression of alpha-SMA, whereas IFN-gamma blocks it and markedly prevents the fibroblast-myofibroblast switch induced by TGF-beta1 on normal gingiva cultures. IFN-gamma altered HGF myofibroblasts metabolism with a decrease of both alpha-SMA and type I collagen expression. Additionally, IFN-gamma treatment stimulated SMAD7 expression and inhibited connective tissue growth factor, which has been considered a key molecule to promote the transdifferentiation of myofibroblasts via TGF-beta1 activation. CONCLUSIONS: These findings demonstrate that TGF-beta1 induces gingival fibroblast-myofibroblast transdifferentiation, whereas IFN-gamma blocks this process. More importantly, this study suggests that IFN-gamma may be clinically effective in attenuating excessive accumulation of extracellular matrix produced by myofibroblasts in HGF.

Análise histológica de tecido gengival de indivíduos que apresentam fibromatose gengival induzida por medicamento / Histological analysis from gingival tissue of individual with drug induce fibromatosis

O mecanismo da fibromatose gengival (FG)induzida pela ciclosporina é desconhecido, no entanto, proliferação de fibroblastos gengivais, síntese protéica e produção de colágeno parecem ser responsáveis por este efeito adverso. Objetivo: foi avaliar características da FG induzida pela ciclosporina, por meio de análise histomorfológica e histomorfométrica. Método: participaram quatro indivíduos usuários de ciclosporina (teste) e quatro periodontalmente saudáveis (controle). Amostras do tecido gengival foram obtidas após procedimento cirúrgico periodontal. Vinte e quatro lâminas foram coradas com Hematoxilina e Eosina para contagem de fibrolastos e 24 coras com Picrosírius para quantificação das fibras colágenas. Resultados: a média dos fibroblastos encontrada nos controles foi de 41,5 mais ou menos 18,7 e os testes de 58,6 mais ou mesnos 27,9. A quantificação da fração de área do colágeno foi determinada pela área ocupada em porcentagem. A médiados controles foi de 57,6 mais ou menos 7,5 e dos testes de 52,7 mais ou menos 12,2. Quando aplicado o teste t para o nível de significância de 95 por cento foi encontrada diferença estatística entre os grupos (p=0,000 e p=0,012) respectivamente. Conclusão: os achados sugerem que o mesmo apresentando uma maior quantidade de células, o volume gengival deve estar relacionado com a produção de outros componentes teciduais diferentes da produção de colágeno.

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.