|Year : 2015 | Volume
| Issue : 3 | Page : 208-210
Hereditary gingival fibromatosis: A heterogeneous genetic disorder
Kunal Sah1, Sunira Chandra2, Navdeep Kaur3
1 Department of Oral Pathology and Microbiology, Saraswati Dental College, Lucknow, Uttar Pradesh, India
2 Department of Oral Medicine and Radiology, Saraswati Dental College, Lucknow, Uttar Pradesh, India
3 Department of Oral Medicine and Radiology, Rayat and Bahra Dental College, Gharaun, Mohali, Punjab, India
|Date of Web Publication||9-Dec-2015|
Department of Oral Pathology and Microbiology, Saraswati Dental College, Faizabad Road, 233 Tiwari Ganj, Lucknow - 227 105, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Hereditary gingival fibromatosis [HGF] is a genetically heterogeneous disorder causing gingival enlargement. This condition is generally diagnosed alone or occasionally in association with various other abnormalities or syndromes. Here, we present and discuss a case of HGF in a 45-year-old female patient.
Keywords: Genetic, gingiva, hereditary gingival fibromatosis, syndrome
|How to cite this article:|
Sah K, Chandra S, Kaur N. Hereditary gingival fibromatosis: A heterogeneous genetic disorder. Saudi J Health Sci 2015;4:208-10
| Introduction|| |
Hereditary gingival fibromatosis (HGF) is a uncommon condition characterised by an gingival overgrowth. The hyperplastic tissue is of normal colour and not especially liable to trauma. The degree of swelling varies from the mild to the grotesque. The enlargement usually begins with the eruption of the permanent dentition, occasionally with the eruption of the deciduous dentition, and rarely is present at birth. It is a benign condition associated with various factors like inflammation, hormonal imbalance, neoplasia, and some unknown causes.
HGF can occur as an isolated disease affecting only gingiva, or as part of a syndrome. HGF has also been associated with mental retardation, epilepsy, progressive sensorineural hearing loss and abnormalities of the toes and fingers and hypertrichosis., HGF is genetically heterogeneous and can be inherited as an autosomal dominant or autosomal recessive or sporadic forms of inheritance. It is reported to have a phenotype frequency of 1:175,000 and a gene frequency of 1:350,000 assuming that the condition to be inherited is the result of an autosomal dominant gene.
Mutation in son-of-seven less gene (SOS-1) has been identified as an etiologic for non-syndromic HGF. Transduction of signals that control cell growth and differentiation is done by guanine nucleotide-exchange factor. Mutations, duplications, deletions and other genetic anomalies are found in 2p21-p22 (GINGF), 2p13-p16, 2p22.3-23 (GINGF3), 5q13-q22 (GINGF2), 4q21, and 4q. Other genetic loci like 8, 14q, 19p, 19q, and Xq are also related to various syndromes associated with HGF. No recessive locus has yet been identified., This case report describes a 45-year-old female patient with severe gingival enlargement.
| Case Report|| |
A 45-year-old female reported with the chief complaint of swollen gums and difficulty in eating. She recalled, that the swelling initiated when she was about 6 to 7 year old. Initially, it started in focal areas, gradually involving the entire oral cavity, and had increased to the present size. She had visited the local dentist for the removal of her teeth. She also gave family history of similar condition affecting her mother. Medical and Dental history were insignificant.
General physical examination was non-contributory. Extraoral examination showed mild facial asymmetry. Intraorally, severe gingival enlargement was observed [Figure 1] and [Figure 2], involving all the quadrants [Figure 3], [Figure 4], [Figure 5], [Figure 6]. It was of normal color with slightly blanched, and on palpation was firm in consistency. Generalized grade 1 mobility of all the teeth were noticed. Her oral hygiene was poor with generalized plaque and calculus. Halitosis with multiple carious teeth and bleeding on mild probing was observed. No other extraoral or intraoral deformity/abnormality was noted. Radiological examination revealed generalized initial bone loss (horizontal and vertical). Considering patient's history, clinical and radiological examination a clinical differential diagnosis of inflammatory gingival hyperplasia and generalized gingival fibromatosis (familial) was made.
Patient was subjected to scaling (ultrasonic). She was prescribed with 0.2% chlorhexidene mouth wash. Brushing technique was demonstrated and oral hygine instructions were given. Incisional biopsy was taken from the involved area, fixed in 10% neutral buffered formalin, and was routinely processed.
Histopathological examination revealed a para-keratinized stratified squamous epithelium with pseudoepitheliomatous hyperplasia. Underlying connective tissue stroma was moderately collagenous, hypovascular and shows numerous interlacing collagen bundles [Figure 7]. Based upon the histopathological findings and with clinical correlation a final diagnosis of gingival fibromatosis (familial type) was made. Phase wise surgical therapy (External bevel gingivectomy with gingivoplasty) under local anaesthesia was planned.
|Figure 7: Photomicrograph showing para-keratinized stratified squamous epitheliumwith moderatelydense connective tissue stroma with mild inflammation. (H and E, x20)|
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| Discussion|| |
HGF is a rare condition characterised by a firm, painless enlargement of the gingiva. This condition has been reported under a variety of synonyms which include hereditary gingival fibromatosis, elephantiasis gingivae, idiopathic hyperplasia of the gums, and diffuse fibroma of the gums.
The precise mechanism of idiopathic gingival fibromatosis is unknown but it is believed to originate from the fibroblasts of gingivae. The presence of teeth may be necessary for the commencement of the growth process. The enlarged gingivae may hinder tooth eruption, mastication and oral hygiene. In severe cases, the enlarged gingivae may prevent eruption of the primary or permanent teeth.
Clinically HGF develops as a slowly progressive, benign, localised or generalized enlargement of keratinized gingiva that, in severe cases, may cover the crowns of the teeth. Localized forms of HGF usually affect the maxillary tuberosities and the labial gingivaaround the mandibular molars. However, the symmetric generalized form of HGF that affects the labial, lingual, and palatal gingiva is the most common. Males and females are equally affected.
Enlarged gingiva may be normal in color or erythematous and are firm and nodular on palpation. Although the alveolar bone is usually unaffected, gingival enlargement results in pseudo-pocketing and periodontal problems, due to difficulties in maintaining an effective level of oral hygiene. The overgrowth may also result in functional and aesthetic concerns, create diastemas, impede or delay tooth eruption, and create changes in facial appearance as a result of lip protrusion. Severe overgrowth can result in crowding of the tongue, speech impediment, and difficulty with mastication and can prevent normal closure of lips. The onset of gingival overgrowth usually coincides with the eruption of the permanent incisors, or, at times, with the eruption of the primary dentition. In very rare cases; it can be also present at birth.
The treatment of HGF varies from simple oral hygiene measures and scaling for mild cases to additional surgical procedures in more severe cases. The excessive growth of gingivae and the associated disturbances in speech and aesthetics warranted a surgical approach in this case. The treatment plan included the use of conventional as well as electrosurgical procedures to attain an acceptable aesthetic result. Use of carbon dioxide laser have been documented in few studies, however, conventional external bevel gingivectomy with gingivoplasty is the most widely used method especially when there are pseudo pockets and no attachment loss whereas periodontal flap procedure is preferred when fibromatosis is accompanied with attachment loss and osseous defects. Several case reports have reported minimal or no recurrence within a period of 2 years, 3 years, or even 14 years follow-up.
| Conclusion|| |
HGF is genetic heterogeneous disorder, characterised by the proliferative fibrous overgrowth of the gingival tissue, with varying degrees of involvement. Still its pathogenesis is uncertain. Various animal and cell culture models can be used to target appropriate genetic mutations and its distinct signalling pathways inorder to identify the key molecules behind its pathogenesis.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]