Hereditary Gingival Fibromatosis: Report of a Five‐Generation Family Using Cellular Proliferation Analysis

Martelli‐Júnior, Hercílio; Lemos, D.P.; Silva, Cléverson O.; Graner, Edgard; Coletta, Ricardo D.

doi:10.1902/jop.2005.76.12.2299

Cited by 35 publications

(38 citation statements)

References 27 publications

(33 reference statements)

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“…Previous studies indicated increased proliferation rates for epithelial cells and fibroblasts in HGF gingiva. Immunohistochemical assays for epidermal growth factors, epidermal growth factor receptor, proliferating cell nuclear antigen, and pKi-67 generally reported increased epithelial cell proliferation in HGF tissue (Araujo et al, 2003;Saygun et al, 2003;Almeida et al, 2005;Martelli-Junior et al, 2005). Increased fibroblast proliferation has also been reported with 5-bromo-2-deoxyuridine incorporation into DNA (Tipton et al, 1997(Tipton et al, , 2004Almeida et al, 2005).…”

Section: Discussionmentioning

confidence: 95%

“…Whether the increased gingiva reflects increased cell numbers, extracellular collagen, or other extracellular constituents is not always clear, and the underlying mechanism is unknown. Reported histological, morphological, and cellular characteristics of HGF gingival tissues differ (Johnson et al, 1986;Shirasuna et al, 1988;Hou, 1993;Barros et al, 2001;Araujo et al, 2003;Saygun et al, 2003;Tipton et al, 2004;Almeida et al, 2005;Gagliano et al, 2005;Martelli-Junior et al, 2005). Genotype-phenotype correlations are problematic, because it is unknown if reported differences between individuals with HGF are due to variable expression of a common gene mutation, allelic mutations, non-allelic mutations, or methodological differences (Hart et al, 2000;Xiao et al, 2000Xiao et al, , 2001Tipton et al, 2004;Ye et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

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Characterization of Fibroblasts with Son of Sevenless-1 Mutation

et al. 2006

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Although non-syndromic hereditary gingival fibromatosis (HGF) is genetically heterogeneous, etiologic mutations have been identified only in the Son of Sevenless-1 gene (SOS1). To test evidence of increased cell proliferation, we studied histological, morphological, and proliferation characteristics in monolayer and three-dimensional cultures of fibroblasts with the SOS1 g. 126,142-126,143insC mutation. Histological assessment of HGF gingiva indicated increased numbers of fibroblasts (30%) and increased collagen (10%). Cell proliferation studies demonstrated increased growth rates and 5-bromo-2-deoxyuridine incorporation for HGF fibroblasts. Flow cytometry showed greater proportions of HGF fibroblasts in the G2/M phase. Attachment of HGF fibroblasts to different extracellular matrix surfaces demonstrated increased formation of protrusions with lamellipodia. HGF fibroblasts in three-dimensional culture showed greater cell proliferation, higher cell density, and alteration of surrounding collagen matrix. These findings revealed that increased fibroblast numbers and collagen matrix changes are associated with mutation of the SOS1 gene in vitro and in vivo.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Characterization of Fibroblasts with Son of Sevenless-1 Mutation

et al. 2006

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“…5 HGF as an isolated feature is believed to be expressed as an autosomal dominant trait. 9 According to the genetic history of the present case, autosomal-dominant inheritance is a feasible diagnosis because family members of both sexes were affected, and the condition was present in two successive generations (mother and two sons); however, there was no history of consanguinity in the family.…”

Section: Discussionmentioning

confidence: 78%

Extensive Gingival Enlargement in Siblings : A Case Report = ضخامة اللثة الشاملة عند الأشقاء : تقرير حال

Pushpanshu¹,

Kaushik²,

Sathawane³

et al. 2012

SQUMJ

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Gingival hyperplasia is an unusual condition which interferes with speech, mastication, occlusion, lip continence, and facial appearance of the affected individual, causing aesthetic, functional, psychological, and masticatory disturbances. Drug-induced gingival enlargements are the commonest form. The inherited condition in which the gingival tissue spontaneously and progressively enlarges is identified as hereditary gingival fibromatosis (HGF).1 It is a rare condition, affecting only one in 750,000 people, with males and females being equally affected.2 HGF is characterised by a slowly progressive, non-haemmorhagic fibrous enlargement of gingival tissue, occurring peripheral to the alveolar bone, which does not involve the periodontal ligament. The hyperplastic gingival tissue usually presents with a normal colour and has a firm consistency with abundant stippling. 3,4 Furthermore, HGF usually develops as an isolated disorder but can be one feature of a syndrome or a chromosomal abnormality. Accordingly, it has been divided into two forms: non-syndromic and syndromic. 5The gingival enlargement usually begins with the eruption of the permanent or deciduous dentition. 1The growth may worsen throughout adolescence, suggesting an influence of growth hormones. 6 The clinical presentation of HGF is highly variable, both in the number of teeth involved and degree of Sultan Qaboos University Med J, November 2012, Vol. 12, Iss. 4, pp. 517-521, Epub. 20 th Nov 12 The condition may be found in an autosomal dominant or autosomal recessive mode of inheritance, the former being more common. It usually develops as an isolated disorder but can be one feature of a multisystem syndrome. Accordingly, HGF has been divided into two forms: non-syndromic and syndromic. The gingival enlargement can be localised or generalised, but usually involves both arches. The authors describe a case of non-syndromic generalised severe HGF, involving the maxillary and mandibular arches in two brothers. This report focuses on the diagnosis, treatment, and control of the disease. The pattern of inheritance and histopathologic characteristics are also emphasised.

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“…It may manifest as an autosomaldominant and autosomal-recessive mode of inheritance [77,78]. Consanguinity has been observed in the recessive mode of familial gingival ibromatosis [79,80].…”

Section: Genetic Disorders With Periodontal Manifestations and Consanmentioning

confidence: 99%

Oral and Periodontal Diseases in Consanguineous Marriages

Çalışır¹

2017

Insights Into Various Aspects of Oral Health

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Periodontitis is deined as an inlammatory disease of supporting tissues of teeth characterized by progressive destruction of the periodontal ligament and alveolar bone. Periodontal manifestations of these genetic disorders or syndromes, such as familial and cyclic neutropenias, granulomatous disease, agranulocytosis, Langerhans' cell disease, glycogen storage disease, hypophosphatasia, leucocyte adhesion deiciency, and Papillon-Lefèvre, Chédiak-Higashi, Cohen, Ehlers-Danlos, Marfan, Down, Haim-Munk, and Kindlers syndromes, imitate some types of periodontal diseases. Most of these syndromes have autosomal-recessive characterization and can be seen commonly in consanguineous marriages. Therefore, consanguineous marriages have generally been accepted as having important detrimental efects on ofspring. There is a lot of genetic research about consanguineous marriage and its detrimental efects on ofspring. Although consanguineous marriages are common in the world, the relationship with oral and periodontal diseases has not been thoroughly investigated. We do not have enough of an understanding of the efects of consanguineous marriage on oral and periodontal diseases. In this chapter, previous studies in the literature related to this subject will be investigated and evaluated, and then this research will be related to oral and periodontal diseases. Therefore, this chapter will guide further research. The aim of this chapter is to show the relation between consanguineous marriages and oral-periodontal diseases.

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Hereditary Gingival Fibromatosis: Report of a Five‐Generation Family Using Cellular Proliferation Analysis

Cited by 35 publications

References 27 publications

Characterization of Fibroblasts with Son of Sevenless-1 Mutation

Characterization of Fibroblasts with Son of Sevenless-1 Mutation

Extensive Gingival Enlargement in Siblings : A Case Report = ضخامة اللثة الشاملة عند الأشقاء : تقرير حال

Oral and Periodontal Diseases in Consanguineous Marriages

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