JICDRO is a UGC approved journal (Journal no. 63927)

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CASE REPORT
Year : 2016  |  Volume : 8  |  Issue : 2  |  Page : 129-132

Hereditary gingival fibromatosis: A report of two cases in the same family


Department of Periodontology, JSS Dental College and Hospital (A Constituent of JSS University), Mysore, Karnataka, India

Date of Web Publication15-Jul-2016

Correspondence Address:
Dr. Vanali V Umrania
Room No. 9, Department of Periodontology, JSS Dental College and Hospital, JSS University, SS Nagar, Mysore - 570 015, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2231-0754.186423

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   Abstract 

Overgrowth of keratinized gingival tissues is a common condition and is described under variety of names. Causes of such enlargement can be medications, hereditary, and/or local irritating factors. Mutation in SOS1, son-of-sevenless gene, is thought to be responsible for hereditary gingival fibromatosis. This report shows a case of 19-year-old male and his 15-year-old sister, with a chief complaint of overgrowth of gingival and irregularly placed teeth. A similar overgrowth was also found in other members of the same family, without any drug history or syndromic conditions. An occurrence of the disease has been found in two generations of this family and therefore, it may be following autosomal dominant trait of inheritance. Since it is idiopathic and has a genetic cause for its occurrence, it cannot be prevented. Both cases underwent a surgical intervention to rectify the abnormality and were followed from 6 months to 1 year, during which there was no recurrence.

Keywords: Family history, hereditary gingival hyperplasia/fibromatosis, idiopathic gingival enlargement, pedigree analysis, recurrence


How to cite this article:
Umrania VV, Reddy NV, Chandrashekhara Rao DP, Hegde U. Hereditary gingival fibromatosis: A report of two cases in the same family. J Int Clin Dent Res Organ 2016;8:129-32

How to cite this URL:
Umrania VV, Reddy NV, Chandrashekhara Rao DP, Hegde U. Hereditary gingival fibromatosis: A report of two cases in the same family. J Int Clin Dent Res Organ [serial online] 2016 [cited 2019 Sep 21];8:129-32. Available from: http://www.jicdro.org/text.asp?2016/8/2/129/186423


   Introduction Top


Overgrowth of keratinized gingival tissues is a common condition and is described under variety of names. Causes of such enlargement can be medications, hereditary, and/or local irritating factors.

Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival enlargement, elephantiasis gingival, hereditary gingival hyperplasia, idiopathic fibromatosis, and hypertrophied gingival is a rare (1 in 750,000) hereditary condition characterized by slow, progressive enlargement of the gingival. Males and females are equally affected.[1]

Studies on the genetic mode of transmission of such anomalies are thought to be autosomal dominant. Mutation in SOS1, son-of-sevenless gene, is responsible for this disease. SOS1 is a guanine nucleotide-exchange factor that functions in the transduction of signals that control cell growth and differentiation. A mutation in the SOS1 gene results in a single nucleotide insertion. Research shows that there are two separate loci present on the chromosomes for such conditions. Specific linkage studies have localized the mutation for isolated, nonsyndromic autosomal dominant forms of gingival fibromatosis to chromosomes 2 and 5, more specifically 2p21-p22 and 5q13-q22.[2]

On intraoral clinical examination, it is benign, slowly progressive, nonhemorrhagic, and fibrous enlargement of keratinized gingival. It can cover teeth to varying extent and can compromise function and can also raise esthetic concerns. Problems associated with this type of enlargement are diastemas, malpositioning of teeth, prolonged retention of primary teeth, crossbite, open-bite, prominent lips, altered lip, and facial profile.

It mostly exists as an isolated abnormality but can also be concomitant with multisystem syndromes such as Zimmermann–Laband syndrome,[3] Jones syndrome,[4] Ramon syndrome,[5] Juvenile hyaline fibromatosis,[6] and systemic infantile hyalinosis.[7] Researchers claim that this mutation in the SOS1 gene is a probable primary cause of this disease, but limited information supports the mechanism of this claim.[8]

Since it is thought to be having genetic cause for its occurrence, it cannot be prevented.


   Case Reports Top


Case 1

A nineteen-year-old male patient reported to outpatient department of Jagadguru Sri Shivarathreeswara Dental Hospital with a chief complaint of irregularly placed teeth and swollen gums associated with unesthetic appearance. The family history of affected persons was determined by questioning of the index case and it was confirmed that there were other family members, who also had the symptoms of gingival overgrowth and that was subsequently confirmed by clinical examination.

The other members were his sister, mother, and maternal uncle, who were also affected in similar way which was reported after several months. The family history of three generations was available and it was understood that the trait of gingival fibromatosis followed possible autosomal dominant pattern of inheritance in this family [Figure 1], and there were no consanguineous marriages in the family. No genetic testing was done in our report [Figure 1].
Figure 1: pedigree analysis of three generations of this family. Affected individuals are indicated by blackened symbols. Circles denote females and squares denote males; a slash through a symbol denotes a deceased individual. Clinically unaffected individuals are indicated by an unblackened symbol. The proband is indicated by the arrow. The flattened oval symbol indicates individuals who participated in this study

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The patient neither had any deleterious habit, nor he was on any medication. Oral home care practices of the patient were brushing once a day in horizontal motion.

On extra-oral examination, there was no abnormality detected with respect to symmetry of face.

On intraoral examination plaque index and oral hygiene index-simplified showed fair status. The gingival index showed good status. Bleeding index showed bleeding at 20% of sites. Gingival contour showed loss of knife-edge margins to rounded margins and loss of scalloping. The consistency of gingival was firm, size was enlarged, and position was coronal to cementoenamel junction. The thickness of enlarged tissue on buccal and palatal aspects was 3 mm in posterior regions of both arches bilaterally.

Generalized pseudo pockets were found in posterior regions of all quadrants. Overjet and overbite measurements were normal. All hematological examinations were normal. Orthopantomogram showed normal architecture of bone.

Interventional phase

Full-mouth scaling was done. Considering the size and extent of enlargement, quadrant-wise gingivectomy was performed under local anesthesia. External bevel or internal bevel gingivectomy was performed as indicated and the tissues were sent for histopathological examination [Figure 2] and [Figure 3].
Figure 2: case 1 – 1st quadrant (a) upper left posterior region preoperative (b) external bevel gingivectomy incision given after marking the pocket depth (c) immediate postoperative (d) 1-year follow-up

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Figure 3: case 1 – 3rd quadrant (a) lower left posterior region preoperative view (b) lower left posterior region immediate postoperative

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Histological examination showed hyperplastic stratified squamous epithelium with thin elongated rete ridges. Underlying connective tissue showed dense fibro-collagenous tissue and mild lymphocytic infiltration. Hence, the case was diagnosed as gingival hyperplasia [Figure 4]. Based on the clinical picture, family history, and histological findings, the case was diagnosed as HGF.
Figure 4: histopathological picture (a) case 1 (b) case 2

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Case 2

A fourteen-year-old female patient reported to outpatient department of Jagadguru Sri Shivarathreeswara Dental Hospital with a chief complaint of irregularly placed teeth and swollen gums associated with unesthetic appearance, which had started since past 5–6 months. She also had a habit of mouth breathing. She was not on any medication and was systemically healthy. This was her first visit to a dentist. She was the sibling of the case described above.

Extra-oral findings were convex profile with incompetent lips. Intraorally, she had a retained deciduous upper right canine with preshedding mobility and intra-oral periapical radiograph (IOPAR) showed resorbed root. Overjet and overbite were increased. Gingival enlargement was present on buccal and palatal aspects of both arches bilaterally covering half of tooth structure in the anterior region and three-fourth of tooth structure was covered in the posterior region. The enlargement was slowly progressive, involving attached gingival, interdental papilla, and marginal gingival. Enlargement was firm in consistency without evidence of pus discharge and bleeding, coral pink in color, and nontender on palpation. The thickness of enlarged tissue on buccal and palatal aspect was 3 mm in the posterior region of both arches bilaterally. Teeth were nonmobile but hypoplastic.

Intraoral occlusal radiographs and orthopantomograph were advised, which showed normal trabecular pattern of both arches, without bone loss. General body examination and blood investigations were advised to eliminate any medical abnormalities and none was found. Based on these findings provisional diagnosis was given as HGF.

Interventional phase

Full-mouth scaling was done. Considering the size and extent of enlargement, quadrant–wise gingivectomy was performed under local anesthesia. External bevel gingivectomy was done and the tissues were sent for histopathological examination [Figure 5].
Figure 5: case 2 - clinical photographs (a) upper arch preoperative showing width of the enlargement, (b) right side vertical component of enlargement covering full length of the crown, (c) 1-week postoperative after gingivectomy in the 2nd quadrant (d) lower right posterior region preoperative of the 4th quadrant, (e) buccal aspect immediate postoperative of the 4th quadrant, and (f) lingual aspect immediate postoperative of the 4th quadrant

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Histopathological report

Sections studied showed hyperplastic stratified squamous epithelium with thin elongated rete ridges. Underlying connective tissue showed dense fibro-collagenous tissue and mild lymphocytic infiltration [Figure 4].


   Discussion Top


Enlargement of gingival tissue is a common feature of gingival disease. Therefore, current terminology for this condition is a gingival enlargement or gingival overgrowth. This was suggested to avoid the use of confusing terms like gingival hyperplasia and hypertrophy as these conditions do not show pathological changes seen in hyperplasia or hypertrophy. Gingival enlargement may be caused by a multitude of causes, which are drug-induced, induced by local factors like plaque and calculus, and associated with systemic factors, neoplastic, or idiopathic.

In this report, two siblings presented with diffuse generalized fibrotic enlargement. Clinical features and family history led to a diagnosis of HGF, which was later supported by histopathological examination.

The patients were treated with scaling and root planing along with surgical procedure like gingivectomy. Patients reported 1 month after they had undergone the surgical procedure and were again reviewed 6 months later. The male patient (case 1) was followed up to 1 year. Both were found to be in a stable condition though the recurrence of HGF cannot be ruled out in the future. In general, surgical intervention after scaling of teeth and sufficient oral home care are sufficient to alleviate the symptoms. Histopathological study was carried out to ensure that there was no evidence of dysplasia. Histopathology and ultrastructural findings in literature show that there is increased amount of collagen fiber bundles in all directions associated with few fibroblasts. Electron microscopy findings from earlier researches also show collagen fibrils with structural abnormalities, including diameter variations and presence of increased oxytalan and few elastin fibers. Since histopathological features of HGF are not pathognomonic, the definitive diagnosis should be based on family history and clinical features.[9]

Some of the other case reports by Majumder et al.[1] and Martelli-Júnior et al.[9] have also performed similar treatment protocols, where there has been no periodontal destruction. The treatment being, oral prophylaxis with 0.12% chlorhexidine mouthwash twice/day for 2 weeks, and quadrant-wise internal or external bevel gingivectomy with/without secondary gingivoplasty with stringent follow-up schedule. Others additionally used fluoride gel to relieve dentinal hypersensitivity.

In literature, it is hypothesized that the gingival overgrowth develops through activation of fibroblasts, characterized by its increased proliferation, less of metalloproteinase synthesis (MMP-1 and MMP-2), and abnormal increase in collagen production and its accumulation in extracellular matrix.[10]

Although HGF is generally associated with syndromic conditions, in our cases, a thorough evaluation of the patients revealed that there was no association of HGF with any of the syndromes.


   Conclusion Top


These cases presented the clinical features of a typical HGF which were treated with gingivectomy. Benefits of surgical intervention are recognized to improve patient's quality of life. This is because removal of hyperplastic gingival tissue eliminates difficulties in eating and speaking and helps in maintaining oral hygiene. It also leads to psychological benefits due to esthetic improvement. Frequent recall visits and good oral hygiene maintenance are required to help in early diagnosis of recurrence.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Majumder P, Nair V, Mukherjee M, Ghosh S, Dey SK The autosomal recessive inheritance of hereditary gingival fibromatosis. Case Rep Dent 2013;2013:432864.  Back to cited text no. 1
    
2.
Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, et al. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet 2002;70:943-54.  Back to cited text no. 2
    
3.
Laband PF, Habib G, Humphreys GS. Hereditary gingival fibromatosis. Report of an affected family with associated splenomegaly and skeletal and soft-tissue abnormalities. Oral Surg Oral Med Oral Pathol 1964;17:339-51.  Back to cited text no. 3
[PUBMED]    
4.
Jones G, Wilroy RS Jr., McHaney V. Familial gingival fibromatosis associated with progressive deafness in five generations of a family. Birth Defects Orig Artic Ser 1977;13:195-201.  Back to cited text no. 4
    
5.
Pina-Neto JM, Moreno AF, Silva LR, Velludo MA, Petean EB, Ribeiro MV, et al. Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet 1986;25:433-41.  Back to cited text no. 5
[PUBMED]    
6.
Piattelli A, Scarano A, Di Bellucci A, Matarasso S. Juvenile hyaline fibromatosis of gingiva: A case report. J Periodontol 1996;67:451-3.  Back to cited text no. 6
    
7.
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73:791-800.  Back to cited text no. 7
    
8.
Häkkinen L, Csiszar A. Hereditary gingival fibromatosis: Characteristics and novel putative pathogenic mechanisms. J Dent Res 2007;86:25-34.  Back to cited text no. 8
    
9.
Martelli-Júnior H, Bonan PR, Dos Santos LA, Santos SM, Cavalcanti MG, Coletta RD. Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. J Periodontol 2008;79:1287-96.  Back to cited text no. 9
    
10.
Coletta RD, Graner E. Hereditary gingival fibromatosis: A systematic review 2006;77:753-64.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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