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Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth. (SOURCE 2) HGF is genetically heterozygous and characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement. (SOURCE 1) Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth. (SOURCE 1, 2) Phenotype and genotype frequency of HGF is 1 : 175,000 where males and females are equally affected. (SOURCE 2, 6) Predominantly existing as an isolated abnormality, it can also be associated with a multi-system syndrome. (SOURCE 12)

Classification

Overall:

HGF is a benign and idiopathic condition, where the etiology is unknown. (SOURCE 2) Some researchers suggest that HGF is transmitted as a Mendelian trait since both autosomal dominant and autosomal recessive transmission has been reported since the early 1970s. (SOURCE 1) In more recent scientific literature, there is evidence in which pedigree analyses confirm autosomal dominant, autosomal recessive or even as X-linked inherited cases of the HGF trait.(SOURCE 8,9)

Factors Associated with HGF:

  • Inflammation (SOURCE 5,6)
  • Hormonal Imbalance (SOURCE 5,6)
  • Neoplasia (SOURCE 5,6)
  • More commonly associated with an autosomal dominant gene inheritance (SOURCE 2)
  • Multi-system syndromes - Zimmerman-Laband Syndrome, Jones Syndrome, Ramon Syndrome, Rutherford Syndrome, Juvenile Hyaline Fibromatosis, Systemic Infantile Hyalinosis, and Mannosidosis (SOURCE 12)
  • Some unknown causes (SOURCE 5,6)

Cause:

A mutation in SOS-1, son-of-sevenless gene, is responsible for this disease and has been reported in consensus among several authors. (SOURCES 1, 7, 10, 11) SOS-1 is a guanine nucleotide-exchange factor that functions in the transduction of signals that control cell growth and differentiation. A mutation in the SOS-1 gene results in a single nucleotide insertion. (SOURCE 11) 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). (SOURCE 1) It can also be an unwanted side effect of pharmacological agents like dilantin, cyclosporin, and some calcium-channel blockers. Therefore, it can be drug-induced. Although, there is little next to no research done in this area to support the claim. (SOURCE 1)

HGF can be divided into two specific categories:

HGF1 - Mutation in the SOS1 gene localized on chromosome 2p21-p22 (SOURCE 1)

HGF2 - Mutation in the SOS1 gene localized on chromosome 5q13-q22 (SOURCE 1)

Physical Signs and Symptoms:

  • Healthy Gingival tissue is pink, firm, and fleshy. Some obvious signs/symptoms of HGF are:
  • Most obvious sign is gingival overgrowth (all SOURCES)
  • Hindered chewing efficiency and difficulties eating (SOURCE 2)
  • Abnormally shaped teeth and abnormal movement of teeth (SOURCE 7)
  • Inflammation and/or swelling of the gums/gingiva (SOURCES 5,6)
  • Not necessarily any signs of pain but it is possible (SOURCE 2)
  • Other dental and oral problems (SOURCE 7)


Mechanism

Genetic linkage studies were conducted to localize genetic loci for autosomal dominant forms of HGF to chromosome 2p21-p22 (HGF1) and chromosome 5q13-q22 (HGF2). Chromosome 2p21-p22 was refined to an interval of ∼2.3 Mb to construct an integrated physical and genetic map of the interval identified 16 genes. The mutation was found in sequencing these 16 genes. The insertion of a cytosine between nucleotides 126,142 and 126,143 in codon 1083 of the SOS-1 gene dominantly segregates over generations introducing a frame shift. Then, this causes a premature stop codon, ridding the chromosome of four important proline-rich SH-3 binding domains in the carboxyl-terminal region of the SOS-1 protein. As a result, the N-terminal amino acids for SOS-1 is fused into a 22–amino acid carboxyl terminus. (SOURCE 1)

Diagnosis

There may or may not be any evidence of history of HGF in the family nor any usage of taking long-term medicines for any particular disease when it comes to diagnosing HGF. There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. Although, enlargement of gingiva, interdental papilla, hindered speech, mechanical difficulties of the jaw and mouth, and secondary inflammatory changes taking place in the mouth commonly at the marginal gingiva are all very indicative of this condition. Commonly the patient will have mandiblular and maxilliary inflammation and overgrowth as opposed to the traditional pink, firm, and fleshy consistency of healthy gingiva. The patient's jaw may also appear distorted because of the gingiva englargements. Overgrowth of the gingiva can range from slightly covering the surface of teeth or it can even completely engulf the surrounding teeth. The patient can also experience damage or loss of teeth. In addition to a physical evaluation of the patient, a molecular test can be run to check if there is indeed a mutation in the SOS-1 gene to confirm the diagnosis. (ALL SOURCES)

Prevention

Since this condition is generally hereditary, nothing can be done to prevent HGF. However, in some cases where it can develop as a result of rare multi-system syndromes, such as: Zimmerman-Laband, Jones, Ramon Syndrome, Rutherford Syndrome, Juvenile Hyaline Fibromatosis, Systemic Infantile Hyalinosis, and Mannosidosis, it is best if one simply monitors the possible progression for HGF with regular dental check-ups. (SOURCE 12)

If the patient's disease is treated by means of surgery, it is recommended that the patient undergoes post-surgical therapies for maintenance and periodic monitoring of gums for the sake of the possibility of re-occurance of HGF.

Treatment and Prognosis

If Left Untreated

The following can occur if left untreated:

(SOURCES 1, 3, 4)


Treatment

Hereditary gingival fibromatosis is an idiopathic condition. Most recent methods of treatment take the form of surgeries such oral prophylaxis, followed by surgical therapy to monitor, provide proper oral hygiene, and correct the deformity. Although, the nature of recurrence post-treatment is virtually unknown, let alone what type of treatment is most effective for HGF. (SOURCE 2) In some cases, there is re-growth after surgical removal of the excess gingival tissues, in others there is minimal. No cases yet have shown any particular treatment or form of medicine to permanently remove HGF. (SOURCE 1,2)

One type of procedure that can be executed is as follows: Removal of excess tissue under anesthesia through an internal bevel gingivectomy or undisplaced flap followed by gingivoplasty and continuous sling suture placements and periodontal dressing; after about a week of recovery after the surgery, remove sutures and periodically do observational evaluations to look for any signs of re-occurrence. (SOURCE 2)

Recent Research

2002 Study

Researchers describe the genomic organization of the SOS1 gene and provide evidence that a single-nucleotide–insertion mutation of the SOS1 gene on codon 1083 is the preliminary cause of HGF1 in humans. This is the first identified genetic mutation for HGF, but other factors that may contribute to increased gingival tissue in the HGF1 phenotype such as cellular proliferation, survival, or differentiation is still unknown. (SOURCE 1)

2010 Study

There was a case study done on a 16 year-old male with severe gingival overgrowth, almost covering all teeth. Researchers approached this issue with periodontics - a partial gingivectomy and flap surgery. Two months after the procedure, the patient underwent an orthadontic treatment and monthly periodontal check-ups in order to control gingival inflammation only to discover that there was minimal overgrowth observed. Therefore, this case study in particular concluded that surgery followed by regular follow-ups is a good way to treat HGF despite the fact that the risks of re-occurrence of the condition remains high.(SOURCE 12)

2013 Study

Researchers did a study on a family that shows history of autosomal recessive inheritance of HGF. The patients within the family that underwent surgical procedures were re-evaluated six months later only to be found in stable conditions. This study does not dismiss the return of HGF but does claim that general surgical intervention after scaling and root planing of teeth supplemented with good oral hygiene is good enough to prevent the re-occurrence of HGF. This case study also acknowledges how HGF can be part of a multi-system syndrome associated with disorders such as Zimmermann Laband syndrome (ear, nose, bone, and nail defects with hepatosplenomegaly), Rutherford syndrome, microphthalmia, mental retardation, athetosis, and hypopigmentation), Murray-Puretic Drescher syndrome, and Ramon syndrome.(Not the case with the patients studied in this case)(SOURCE 2)


See Also

References

1. Thomas C. Hart, Yingze Zhang, Michael C. Gorry, P. Suzanne Hart, Margaret Cooper, Mary L. Marazita, Jared M. Marks, Jose R. Cortelli, Debora Pallos Am J Hum Genet. 2002 April; 70(4): 943–954. Published online 2002 February 26.

2. Poulami Majumder, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, and Subrata Kumar Dey, “The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis,” Case Reports in Dentistry, vol. 2013, Article ID 432864, 4 pages, 2013. doi:10.1155/2013/432864

3. Smith RG (1997) Gingival recession: reappraisal of an enigmatic condition and a new index for monitoring. J Clin Periodontol 24:201–205. [PubMed]

4. Scannapieco FA (1998) Position paper of The American Academy of Periodontology: periodontal disease as a potential risk factor for systemic diseases. J Periodontol 69:841–850. [PubMed]

5. U. Khan, S. Mustafa, Z. Saleem, A. Azam, and Z. A. Khan, “Hereditary gingival fibromatosis diagnosis and treatment,” Pakistan Oral and Dental Journal, vol. 32, no. 2, pp. 226–231, 2012.

6. K. B. Butchi, K. Pavankumar, B. R. Anuradha, and N. Arora, “Hereditary gingival fibromatosis—a case report and management using a novel surgical technique,” Revista Sul-Brasileira de Odontologia, vol. 8, no. 4, pp. 453–458, 2011.

7. S. DeAngelo, J. Murphy, L. Claman, J. Kalmar, and B. Leblebicioglu, “Hereditary gingival fibromatosis—a review,” Compendium of Continuing Education in Dentistry, vol. 28, no. 3, pp. 138–143, 2007. View at Scopus

8. R. D. Coletta and E. Graner, “Hereditary gingival fibromatosis: a systematic review,” Journal of Periodontology, vol. 77, no. 5, pp. 753–764, 2006. View at Publisher · View at Google Scholar · View at Scopus

9. S. L. Singer, J. Goldblatt, L. A. Hallam, and J. C. Winters, “Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports,” Australian Dental Journal, vol. 38, no. 6, pp. 427–432, 1993. View at Scopus

10. R. J. Jorgenson and M. E. Cocker, “Variation in the inheritance and expression of gingival fibromatosis,” Journal of Periodontology, vol. 45, no. 7, pp. 472–477, 1974. View at Scopus

11. A. Poulopoulos, D. Kittas, and A. Sarigelou, “Current concepts on gingival fibromatosis-related syndromes,” Journal of Investigative and Clinical Dentistry, vol. 2, no. 3, pp. 156–161, 2011. View at Publisher · View at Google Scholar

12. T. Ramakrishnan and Manmeet Kaur, "Multispeciality Approach in the Management of Patient with Hereditary Gingival Fibromatosis: 1-Year Followup: A Case Report," Hindawi Publishing Corporation International Journal of Dentistry, Volume 2010, Article ID 575979, doi:10.1155/2010/575979

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