HEREDITARY GINGIVAL FIBROMATOSIS: A CASE REPORT

CLINICAL DENTISTRY AND RESEARCH 2012; 36(3): 54-58
HEREDITARY GINGIVAL FIBROMATOSIS: A CASE REPORT
Banu Özveri Koyuncu, DDS, PhD
Assistant Professor, Department of Oral and Maxillofacial Surgery,
Faculty of Dentistry, Ege University,
ABSTRACT
Hereditary gingival fibromatosis (HGF) is characterized by
İzmir, Turkey
the slowly progressive fibrous enlargement of gingival tissue
Erdoğan Çetingül, DDS, PhD
transmitted as an autosomal dominant trait and develops as an
Professor, Department of Oral and Maxillofacial Surgery,
isolated disorder but can also be one of the features of various
Faculty of Dentistry, Ege University,
syndromes. The present case report describes a Turkish family
İzmir, Turkey.
Şükrü Kandemir, DDS, PhD
that causes aesthetic and functional problems. It is usually
with individuals having HGF for the last three generations.
Treatment consisted of surgical removal of the hyperplastic
Professor, Department of Periodontology,
fibrous tissue in a series of gingivectomies for 54-year-old
Faculty of Dentistry, Ege University,
male patient who had generalized severe gingival overgrowth
İzmir, Turkey
covering almost all maxillary and mandibular teeth.
Taha Ünal, DDS, PhD
Professor, Department of Pathology,
Faculty of Dentistry, Ege University,
İzmir, Turkey
Correspondence
Banu Özveri Koyuncu, DDS, PhD
Department of Oral and Maxillofacial Surgery,
Faculty of Dentistry, Ege University,
Bornova, 35100 İzmir, Turkey
Phone: +90 232 3881108
+90 232 3398289
Submitted for Publication: 09.21.2011
E-mail: banuozverikoyuncu@yahoo.com
Accepted for Publication : 06.25.2012
Fax:
54
Key words: Gingival Enlargement, Gingivectomy, Hereditary
Gingival Fibromatosis
Hereditary Gingival Fibromatosis
INTRODUCTION
Hereditary gingival fibromatosis (HGF) is characterized
by a slowly progressive, non-hemorrhagic, fibrous benign
enlargement of maxillary and mandibular keratinized
gingiva, the main feature is mature collagenous connective
tissue growing. The hyperplastic gingiva may be localized
or generalized, usually having normal color and firm
consistency with abundant stippling, either unilateral
or bilateral.1,2 Histologically, gingival tissue from HGF is
characterized by a mucosa in which the epithelium shows
rete ridges extending into the underlying connective tissue,
which shows an increased density of collagen fibrils and a
decrease in fibroblasts.3
HGF may occur as an isolated finding or in association
with other systemic features as part of a syndrome such
as Zimmerman-Laband,4 Jones,5 Ramon,6 and Rutherford7
syndromes, Juvenile hyaline fibromatosis,8 systemic infantile
hyalinosis,9 and mannosidosis. 10
The condition is usually identified as an autosomal
dominant condition though recessive forms are also
described in the literature.11 Linkage studies have localized
for isolated, nonsyndromic autosomal dominant forms of
gingival fibromatosis to chromosome 2p21-p2212 and to
chromosome 5q13-q22 .13
The enlargement usually begins at the time of the eruption
of the permanent dentition, although it may also occur
during the eruption of deciduous teeth or even at birth.12
The enlarged gingivae may cover a portion or all the crowns
of teeth, thus potentially interfering with speech, closure of
the lips, and mastication.14 It may delay eruption of teeth
and make cleaning of the teeth virtually impossible. When
the gingiva is the only tissue involved, gingival fibromatosis
might be in association with hypertrichosis, and/or mental
retardation, and/or epilepsy.15
This case report presents HGF in a Turkish family for threegeneration.
CASE REPORT
A 54-year-old male presented with a complaint of excessive
gingival hyperplasia involving both the mandibular and
maxillary arches. On examination, a severe and generalized
diffuse gingival hyperplasia involving the marginal,
interdental and attached gingiva was observed covering
almost all the surfaces of crowns causing severe eating,
speaking and aesthetic problems (Figure 1). Gingiva
was pink with a firm and dense consistency. Poor Oral
Figure 1. Patient with severe gingival hyperplasia in maxilla and
mandible.
hygiene was observed in response to tissue overgnowth.
Radiographic evaluation demonstrated severe alveolar bone
loss (Figure 2). The patient’s medical history has revealed no
signs of hypertrichosis or mental retardation, and no history
of epilepsy or intake of medication known to cause gingival
overgrowth. He referred to our clinic to have a better
esthetic appearance. The patient stated that he had such a
psychological and emotional stress until he reaches to this
age with a fair of surgery.
There was a family history of hereditary gingival overgrowth
as his mother and son had gingival enlargement, involving
the maxilla as well as the mandible. The patient revealed
that his mother and son had several gingival excisional
surgeries because of slowly progressing hyperplasia. None
of the individuals in the family had epilepsy or any type
of seizure disorder, and had not taken any medications
associated with gingival hyperplasia. The mother’s age is 79
and was operated three times about 40 years ago. The son
stated that he had several gingival excisional surgeries 12
years ago. The recurrence was seen after the surgeries in
both of them, the son and mother (Figures 3 and 4).
After giving detailed information to the patient about
the management and taking an informed consent, the
patient decided to initiate the treatment. Multiple surgical
procedures including maxillary and mandibular vestibular
and palatal/lingual gingivectomies, with reverse bevel
incisions, were performed under local anesthesia, to obtain
55
CLINICAL DENTISTRY AND RESEARCH
Figure 2. Orthopantomograph prior to operation.
tissue showing bundles of collagen fibers. The patient
was diagnosed with gingival fibromatosis based on the
microscopic findings.
A 0.12% chlorhexidine gluconate rinse was prescribed for
administration twice a day for 2 weeks. The patient was
seen at 1, 3 and 4 weeks postoperatively. There were no
postoperative complications. After 30 months of follow-up,
poor oral hygiene was observed (Figure 6).
To achieve optimal esthetic appearance, we recommended
orthodontic and prosthetic treatment but the patient
refused these treatments. Also patient’s son refused any
treatment because of overgrowth of the gingival tissue
following the operations.
DISCUSSION
Figure 3. Son’s intraoral photograph showing recurrence.
Figure 4. Mother’s intraoral photograph showing recurrence in the
mandibular cuspid-bicuspid area.
a smoother gingival contour (Figure 5). A biopsy sample of
the gingival tissues was submitted for histologic evaluation.
Microscopic examination of the specimens confirmed
for hereditary gingival hyperplasia. Sections showed a
hyperparakeratinized hyperplastic stratified squamous
epithelium with the underlying fibrous connective
56
Hereditary gingival fibromatosis is rare, affecting only one in
750,000 people.16 It usually develops as an isolated disorder
but can be one feature of a syndrome.17 In this case, the
patient did not exhibit any signs or symptoms suggesting
that the condition was syndromic.
HGF can be inherited as an autosomal dominant though
recessive forms are described in the literature.13 The mode
of genetic transmission in our case, points to an autosomal
dominant gene, because family members (the patient’s
mother and son) of both sexes were affected.
Reports of the histologic, morphologic, and cellular
characteristics of gingival tissues from HGF patients
compared with controls are not always consistent, although
an increase in the amount of collagen is generally reported.18
In recent years, studies aimed to clarify the pathogenic
mechanisms of collagen accumulation in HGF gingivae
but there has been controversy about this mechanism:
gingival fibrosis is a result of increased collagen synthesis
and/or decreased degradation, or alteration in fibroblast
proliferation.19-21
The proliferation and expression of growth factors of
HGF keratinocytes are abnormal. However, the exact role
of keratinocytes in HGF pathogenesis is still unknown.
According to Meng et al.22 HGF keratinocytes have an
important role in HGF pathogenesis by inducing extracellular
matrix (ECM) accumulation by fibroblasts. These authors
reported that results strongly suggest that keratinocyte–
fibroblast interactions contribute to the pathogenesis of
HGF.
The hyperplastic gingiva has usually got a normal color
and firm consistency.2 The clinical presentation of HGF is
Hereditary Gingival Fibromatosis
Figure 5. Photograph following gingivectomy in the maxilla.
Figure 6. Clinical view showing poor oral hygiene after 30 months.
variable in both the distribution (number of teeth involved)
and in the degree (severity) of expression. Buccal and
lingual tissue may be involved in both the mandible and
maxilla, and the severity of hyperplasia may range from
slight enlargement to total coverage of the dentition and
may vary between individuals within the same family.11 In
our case, the hyperplastic gingiva was of normal color and
had a firm consistency. The patient was not able to chew
especially at the anterior region, as the gingiva was almost
covering the maxillary teeth.
Gingival tissue enlargement usually begins with the
eruption of the permanent dentition. There are also cases
which have been reported to occur during the eruption of
the deciduous dentition; however it rarely appears at birth.16
Since recurrence could be expected within a few months
after surgery and may return to the original condition
within few years, the patient may undergo to repeated
gingivectomy procedures. Reports about recurrence rates
are conflicting,23-25 so the long-term benefit of periodontal
reduction surgery cannot be predicted. In severe cases of
hereditary gingival fibromatosis, full-mouth tooth clearance
has been advocated, as some evidence24,25 suggests that the
condition does not recur if the teeth have been extracted.
It was stated that there is less chance of recurrence if the
gingivectomy is delayed until the permanent dentition is in
place.26 However, one report recorded that, deciduous teeth
were retained and permanent teeth were entrapped in the
overgrown gingival tissue. Thus, delaying the gingivectomy
with the goal of avoiding recurrence was contraindicated.
These authors have also stated that as long as patient
is informed about the likelihood of recurrence, repeated
gingivectomies is generally well accepted and well tolerated.
On the other hand, Shekar27 reported that repeated
gingivectomy procedures often causes further increase
in the patients and parents’ psychological and emotional
stress.
Kelekis-Cholakis et al.28 stated that orthodontic treatment
might stimulate recurrence in some patients, especially
if periodontal hygiene is impeded by the orthodontic
appliance but they did not observe significant recurrence
during the first 3 years.
Poor oral hygiene is one of the factors that may aggravate
gingival enlargement as it is seen in the members of this
family. Therefore, the importance of postoperative followup and adequate hygiene should be emphasized to HGF
patients.29,30
CONCLUSION
Hereditary gingival fibromatosis is a rare disease
characterized by the proliferative fibrous overgrowth of the
gingival tissue. Enlargements in the gingiva may cover the
dental crowns resulting in both aesthetic and functional
problems. Multiple surgical procedures, monthly periodontal
examinations and prophylaxis are an essential part of the
treatment protocol. However, additional effort by the
patient is needed to cope with HGF.
REFERENCES
1.Gorlin RJ, Cohen MM, Levi LS, editors. Syndromes of the head and
neck. 3rd ed. New York: Oxford Press; 1990.
2.Rushton MA. Hereditary or idiopathic hyperplasia of the gums.
Dent Pract Dent Rec 1957; 7: 136-146.
3.Araújo CS, Graner E, Almeida OP, Sauk JJ, Coletta RD.
Histomorphometric characteristics and expression of epidermal
growth factor and its receptor by epithelial cells of normal gingiva
and hereditary gingival fibromatosis. J Periodontal Res 2003; 38:
237-241.
57
CLINICAL DENTISTRY AND RESEARCH
4.Shah N, Gupta YK, Ghose S. Zimmermann-Laband syndrome with
bilateral developmental cataract-a new association? Int J Paediatr
Dent 2004; 14: 78-85.
5.Hartsfield JK Jr, Bixler D, Hazen RH. Gingival fibromatosis with
sensorineural hearing loss: an autosomal dominant trait. Am J Med
Genet 1985; 22: 623-627.
6.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: 433-441.
7. Witkop CJ Jr. Heterogeneity in gingival fibromatosis. Birth
Defects Orig Artic Ser 1971; 7: 210-221.
8.Bedford CD, Sills JA, Sommelet-Olive D, Boman F, Beltramo F,
Cornu G. Juvenile hyaline fibromatosis: a report of two severe cases.
J Pediatr 1991; 119: 404-410.
9.Landing BH, Nadorra R. Infantile systemic hyalinosis: report of
four cases of a disease, fatal in infancy, apparently different from
juvenile systemic hyalinosis. Pediatr Pathol 1986; 6: 55-79.
10. Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud
OK et al. Spectrum of mutations in alpha-mannosidosis. Am J Hum
Genet 1999; 64: 77-88.
11. Singer SL, Goldblatt J, Hallam A, Winters JC. Hereditary gingival
fibromatosis with a recessive ode of inheritance: case reports. Aust
Dent J 1993; 38: 427-432.
12. Hart TC, Pallos D, Bowden DW, Bolyard J, Pettenati MJ,
Cortelli JR. Genetic linkage of hereditary gingival fibromatosis to
chromosome 2p21. Am J Hum Genet 1998; 62: 876-883.
13. Xiao S, Bu L, Zhu L, Zheng G, Yang M, Qian M et al. A new locus
for hereditary gingival fibromatosis (GINGF2) maps to 5q13-q22.
Genomics 2001; 74: 180-185.
14. Clark D. Gingival fibromatosis. J Can Dent Assoc 1987; 80:
137-140.
15. Aldred MJ, Bartold PM. Genetic disorders of the gingivae and
periodontium. Periodontol 2000; 18: 7-20.
16. Fletcher JP. Gingival abnormalities of genetic origin:
preliminary communication with special reference to hereditary
gingival fibromatosis. J Dent Res 1966; 45: 597-612.
17. Haytaca MC, Ozcelik O. The phenotypic overlap of syndromes
associated with hereditary gingival fibromatosis: follow-up of
a family for five years. Oral Surg Oral Med Oral Pathol Oral Radiol
Endod 2007; 103: 521-527.
18. Almeida JP, Coletta RD, Silva SD, Agostini M, Vargas PA, Bozzo
L et al. Proliferation of fibroblasts cultured from normal gingiva
58
and hereditary gingival fibromatosis is dependent on fatty acid
synthase activity. J Periodontol 2005; 76: 272-278.
19. Johnson BD, el-Guindy M, Ammons WF, Narayanan AS, Page
RC. A defect in fibroblasts from an unidentified syndrome with
gingival hyperplasia as the predominant feature. J Periodontal Res
1986; 21: 403-413.
20. Shirasuna K, Okura M, Watatami I, Hayashido Y, Saka M, Matsuya
T. Abnormal cellular property of fibroblasts from congenital gingival
fibromatosis. J Oral Pathol 1988; 7: 381-385.
21. Coletta RD, Almeida OP, Graner E, Page RC, Bozzo L.
Differential proliferation of fibroblasts cultured from hereditary
gingival fibromatosis and normal gingiva. J Periodontal Res 1998;
33: 469-475.
22. Meng L, Ye X, Fan M, Xiong X, Von den Hoff JW et al.
Keratinocytes modify fibroblast metabolism in hereditary gingival
fibromatosis. Archives of Oral biology 2008; 53: 1050-1057.
23. Cuestas-Carnero R, Bornancini CA. Hereditary generalized
gingival fibromatosis associated with hypetrichosis: report of five
cases in one family. J Oral Maxillofac Surg 1988; 46: 415-420.
24. Kharbanda OP, Sidhu SS, Panda SK, Deshmuck R. Gingival
fibromatosis: study of three generations with consanguinity.
Quintessence Int 1993; 24: 161-164.
25. Danesh-Meyer MJ, Holbrow DW. Familial gingival fibromatosis:
a report of two patients. N Z Dent J 1993; 89: 119-122.
26. James PL, Prasad SV. Gingival fibromatosis: report of a case. J
Oral Surg 1971; 29: 55-59.
27. Shekar I. Idiopathic gingival fibromatosis. Saudi Dental Journal
2002; 14: 143-145.
28. Kelekis-Cholakis A, Wiltshire WA, Birek C. Treatment and Longterm Follow-up of a Patient with Hereditary Gingival Fibromatosis:
A Case Report. J Can Dent Assoc 2002; 68: 290-294.
29. Şahin S, Saygun NI. Hereditary gingival fibromatosis. GÜ Diş
Hek Fak Derg 2008; 25: 45-50.
30. Bayar GR, Özkan A, Şençimen M, Altuğ HA, Gülses A, Günhan
Ö. Idiopathic gingival fibromatosis: a case report. Gülhane Tıp Derg
2011; 53: 294-296.