Unusual presentation of familial gingival fibromatosis among male siblings.

Gingival enlargement refers to any increase in the size of normal gingiva. The gingiva may be enlarged in response to various interactions between the host and the environment. It can be of various types including inflammatory, drug induced, associated with systemic disease, neoplastic, false, and idiopathic. Idiopathic gingival enlargement is a rare condition of undetermined etiology. The enlargement can be localized or generalized to entire dentition and is usually associated with the emergence of the teeth into the oral cavity and may regress after extraction. Treatment aims to solve patient's psychological, esthetic, and masticatory needs. This is a case series of four siblings (3 boys and 1 girl) who reported to the Department of Periodontology with a chief complaint of swollen gums and difficulty in eating. After careful clinical examination and histopathological evaluation, a diagnosis of familial gingival fibromatosis was made. Treatment plan included gingivectomy and gingivoplasty and follow-ups.

INTRODUCTION

Gingival enlargement refers to any increase in the size of the gingiva. The various etiologies include inflammatory enlargement, drug-induced enlargement, associated with systemic disease, neoplastic, and idiopathic. Hereditary gingival fibromatosis is a gingival disease of genetic origin, clinically manifesting as diffuse enlargement of gingival, and covering the teeth to various extents. Its synonym terms include elephantiasis gingivae, diffuse fibroma, familial elephantiasis, idiopathic fibromatosis, hereditary gingival fibromatosis, and congenital familial fibromatosis.[1] The common mode of inheritance is predominantly autosomal dominant with the incidence of 1:350,000 and also autosomal recessive traits have been documented.[2] This enlargement is due to excessive production of collagen in the gingival connective tissue, affecting the esthetics, phonetics, masticatory functions, and in severe cases interferes with lip closure. It can affect both the maxilla and mandible, presenting as either generalized or localized form and may also have a symmetrical presentation.[3]

Hereditary gingival fibromatosis may be present at birth or begins during the eruption of primary or permanent dentition. The gingival enlargement may present with hypertrichosis, splenomegaly, growth retardation, mental deficiency, epilepsy when it occurs with syndromes such as Zimmerman Laband syndrome, Murray Puretic drescher (juvenile hyaline fibromatosis), Rutherfurd, Cowden syndrome, multiple hamartomas, tuberous sclerosis, or it can occur as an isolated nonsyndromic case as well.[4] Nonsyndromic case of hereditary gingival fibromatosis is genetically linked to chromosome 2p21-22 and 5q13-22, and recently, it is linked to mutation in the SOS.[5] Histopathological sections reveal hyperkeratosis with tall, extended rete pegs and an avascular stroma comprising of dense collagen bundles with a few dispersed fibroblasts. Here, we present an interesting case report of hereditary gingival fibromatosis affecting only three boy siblings and sparing a girl child in the same family.

CASE REPORT

A 15-year-old boy reported to the Department of Periodontology, with the chief complaint of gum overgrowth and difficulty in chewing, speech, and also, it is affecting his beauty. On eliciting the history, from parents, they revealed gingival overgrowth is present from birth and also, two other male children of the family of 8 years and 1 year have similar presentation, but surprisingly, their female child is sparred while eliminating the family history, none of the close relatives or the parents have similar gingival overgrowth.

On extraoral examination of a 15-year-old boy, who had convex profile with incompetent lips. On intraoral examination, there was generalized enlargement of gingiva, involving both the marginal and attached gingiva of varying extent in both buccal and palatal or lingual surfaces of maxillary and mandibular arches [Figure 1]. Gingiva was firm and leathery in consistency. The complete blood count was within limits, and orthopantomograph (OPG) revealed the presence of normal complement of teeth with supernumerary teeth in relation to 18 and 28 [Figure 2].

Figure 1

Intraoral preoperative photograph showing gingival enlargement in 15-year-old boy

Figure 2

Orthopantomograph of both boys revealing the normal pattern of bone and teeth eruption

On extraoral examination of an 8-year-old boy had convex profile with incompetent lips and prominent maxilla. On intraoral examination, there was generalized enlargement of gingival, covering almost the entire dentition of maxillary and mandibular arches [Figure 3]. Gingival was firm and leathery in consistency. The complete blood count was within normal range, and OPG revealed retained deciduous teeth with erupting permanent teeth in various stages of eruption [Figure 2].

Figure 3

Intraoral preoperative photograph showing gingival enlargement in 8-year-old boy

The third sibling, 1-year old boy also had similar gingival enlargement [Figure 4]. However, interestingly, a 3-year-old girl from the same family had normal gingival presentation [Figure 5].

Figure 4

Intraoral preoperative photograph showing gingival enlargement in 1-year-old boy

Figure 5

Intraoral photograph showing normal gingival pattern in 3-year-old female child

With the patient's history, clinical examination, and radiographic evaluation, a provisional diagnosis of hereditary gingival fibromatosis was made. Since in our case, female child is spared from gingival enlargement. X-linked association has to be ruled out. Incisional biopsy was planned to confirm the clinical diagnosis with histopathological examination. Incisional biopsy was done for the 15-year-old and 8-year-old boys under local anesthesia and frenectomy was carried out for the 15-year-old patient concurrently. The biopsy specimen was sent for histopathological evaluation.

The histopathological photomicrograph of both boys shows hematoxylin and eosin-stained section (×10) showing dense collagenous fibrous connective tissue stroma with very minimal vascularity and the overlying epithelium was keratinized having tall sharp rete ridges suggestive of fibromatous lesion [Figure 6].

Figure 6

Photomicrograph shows hematoxylin and eosin-stained section (×10) showing dense collagenous fibrous connective tissue

A final diagnosis of hereditary gingival fibromatosis was given after critical evaluation of patient's history, clinical, laboratory, radiographic, and histopathological evaluation.

The treatment plan was formulated keeping in mind the patients esthetic, phonetic, and masticatory difficulties. The 15-year-old boy was treated with gingivectomy performed by ledge and wedge technique. The 8-year-old boy was treated with external bevel gingivectomy facilitating the eruption of permanent teeth. Surgical excision was done under local anesthesia quadrant wise, and the surgical site was covered using noneugenol periodontal dressing for better patient comfort. The patient was prescribed adequate analgesics for 5 days, and chlorhexidine mouth rinse 0.12% as adjunct to oral hygiene measures.

Postsurgical healing was uneventful. The patients had tolerated the surgical procedures well. The patients were happy following the surgical results as it addressed their esthetic, phonetic, and masticatory functions. The patients were reviewed after 2 weeks, 1 month, 3 months, and 6 months. There is no evidence of any recurrence of disease in both 15-year-old boy [Figure 7] and 8-year-old boy [Figure 8]. Oral hygiene instructions are reinforced during every visit to prevent the recurrence of disease.

Figure 7

Intraoral postoperative photograph of 15-year-old boy after 6-month follow-up

Figure 8

Intraoral postoperative photograph of 8-year-old boy after 6-month follow-up

DISCUSSION

This is a case report of three boy siblings of the same family diagnosed as a case of hereditary gingival fibromatosis. Although many research has been carried out to investigate the etiology of hereditary gingival fibromatosis, the exact genetic mechanism is still not fully understood.[6] The case presented here had gingival enlargement of varying severities affecting marginal and attached gingival of maxillary and mandibular arches. No signs of hypertrichosis, splenomegaly, growth retardation, mental deficiency, epilepsy, and hence considered as a nonsyndromic case of hereditary gingival fibromatosis. The diagnosis was made following a critical evaluation of patient's history, clinical, laboratory, radiographic and histopathological examination.

Hereditary gingival fibromatosis is a rare genetic disease affecting gingiva to varying extent. It can be autosomal dominant or autosomal recessive patterns of inheritance. It affects the marginal and attached gingival of varying extent and may have a symmetrical presentation. Few authors reported an increase in the proliferation of gingival fibroblasts in hereditary gingival fibromatosis than the normal gingival fibroblast. Elevated and prolonged expression of proto-oncogenes c-myc is implicated in increased proliferation of human gingival fibroblast cell line.[7] Few other authors have also reported that the activated gingival fibroblasts in hereditary gingival fibromatosis produce more collagen, fibronectin than normal gingival fibroblasts under the autocrine control of TGF-β favoring the accumulation of extracellular matrix production.[8]

Hereditary gingival fibromatosis affecting marginal and attached gingival to varying degrees of both arches, impeding esthetic, phonetic, and masticatory function, dictates the surgical intervention in the management of hereditary gingival fibromatosis. Quadrant-wise surgical excision was performed under local anesthesia, followed by oral hygiene reinforcement, and periodic follow-up. Recurrence is a common feature varying over a period and this dictates the importance of regular recall visits to evaluate the stability of periodontium.[9]

CONCLUSION

Hereditary gingival fibromatosis is a rare genetic disorder characterized by gingival enlargement of varying extent involving both marginal and attached gingiva of both arches. The underlying esthetic, phonetic, and masticatory difficulties dictate the surgical intervention depending on the severity of enlargement. This article reviews the successful management of nonsyndromic case of hereditary gingival fibromatosis. Enhanced-oral hygiene measures and periodic recall visits help to assess the stability of periodontiun and to prevent the recurrence. The further molecular analysis is required to rule out mode of inheritance.

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Conflicts of interest

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