Gingival fibromatosis with congenital hypertrichosis.

Idiopathic gingival fibromatosis is a slowly progressive proliferative fibrous lesion of the gingival tissue, leading to functional, esthetic, and psychological difficulties. This entity is mainly associated with hypertrichosis and epilepsy either as an isolated disorder or as part of a syndrome. We present a case report of a female with severe generalized gingival fibromatosis and hypertrichosis which was treated by conventional gingivectomies under local anesthesia. Postoperative healing was uneventful with a marked improvement in patient's appearance and oral hygiene. Copyright:

INTRODUCTION

Gingival overgrowth is a common gingival disease which occurs due to inflammation; drugs such as phenytoin, nifedipine, or cyclosporine; leukemic infiltration; malignancies; and false enlargements.[1] Idiopathic gingival fibromatosis (IGF) is a comparatively rare disease with an undetermined cause and is known by various terms such as hereditary gingival hyperplasia, elephantiasis gingiva, diffuse fibroma, familial elephantiasis, gingivostomatitis, and congenital familial macrogingiva.[1] This is characterized as nonhemorrhagic, diffuse increase in bulk of keratinized gingiva, firm and leathery consistency of the gingiva, resulting in functional disturbances, compromised esthetic, psychological, and social issues.[23] Due to trauma induced during eruption, this anomaly usually begins with the eruption of either primary or secondary teeth, thereby resulting in prolonged retention of primary dentition, late eruption of permanent teeth, malocclusion, and incompetent lips.[45]

Although the etiology is unknown, a more common autosomal-dominant mode of inheritance has been reported that may present either as an isolated disorder or as part of a syndrome.[6] Some of the most common conditions found to be associated with IGF are hypertrichosis, epilepsy, and intellectual disability. Congenital generalized hypertrichosis presents by excessive hair growth all over the body as compared to the normal individuals of the same age, gender, and race.[7] The overall hair growth may occur due to increased testosterone levels in the plasma, but the cause of the cases that are associated with gingival fibromatosis still remains unclear.[8]

This case report highlights a case of severe generalized gingival fibromatosis with hypertrichosis which was treated by surgical removal of the hyperplastic tissue and revealed no signs of recurrence.

CASE REPORT

A female patient aged 16 years reported to the department of periodontology with a chief complaint of swollen gums, which led to difficulty in eating and speaking and also made her conscious in her school. The mother refused any chemical intake or medication during pregnancy and stated a normal pregnancy with an uneventful prenatal and postnatal history. Medical history of the patient was insignificant. On clinical examination, the patient was mentally alert and had a normal built with short height and normal weight. Generalized hypertrichosis with coarse facial hair, excessive hair on the hands and feet, graying of hair were noticed [Figure 1a and b]. On extraoral examination, incompetent lips and tongue thrusting were evident. Intraoral examination revealed diffuse grade III gingival enlargement in the entire dentition. The gingiva was pale pink with generalized melanin pigmentation, fibrous consistency, and extended on all tooth surfaces, except the occlusal table of few teeth [Figure 1c and d]. The gingival tissue did not bleed on probing. Pseudopockets ranging from 5 to 10 mm were recorded. The hyperplasia occurred slowly with the eruption of permanent teeth and eventually affected the entire dentition.

Figure 1

(a and b) Examination showing coarse hair on the hands and feet; (c and d) preoperative intraoral view

Orthopantomograph depicted a complete complement of the permanent teeth, with mild rotation of the mandibular canines and no significant alveolar bone loss [Figure 2]. Laboratory investigations included complete blood profile and biochemical and hormonal analyses, all of which were within physiological limits. Based on clinical and radiological findings, a provisional diagnosis of IGF with hypertrichosis was made.

Figure 2

Radiograph showing no significant bone loss

The treatment plan was described to the patient and informed consent was obtained. Quadrant-wise gingivectomy was performed under local anesthesia. Bleeding points were marked by measuring the pocket depth. The incision was placed apical to the bleeding points, and the excess tissue was excised. This tissue was fixed in 10% formalin and sent for histopathological examination. Postoperative instructions were told to the patient and medications (antibiotic, analgesic, and 0.2% chlorhexidine mouthwash) were also prescribed. Gingivoplasty was carried out by electrosurgery wherever necessary. The patient was recalled at regular intervals and followed up for 18 months. The healing was uneventful with no recurrence [Figure 3]. For a complete esthetic makeover, the patient was advised to go in for orthodontic treatment and laser therapy for hypertrichosis.

Figure 3

Postoperative intraoral view of 18 months showing no recurrence

Histopathological features

Hematoxylin and eosin-stained section under low magnification showed epithelium overlying the fibrous tissue stroma. Under higher magnification, a parakeratinized stratified squamous epithelium is seen with orthokeratinization at few places. A fibrous connective tissue stroma with bundles of collagen fibers and fibroblasts was seen. Few inflammatory cells predominantly lymphocytes and endothelial lined blood vessels were also evident in the stroma Figure 4.

Figure 4

(a) Low magnification section showing stratified epithelium; (b) high magnification section showing dense collagen fiber bundles

DISCUSSION

Gingival fibromatosis may be hereditary or idiopathic in origin. Various syndromes such as Zimmermann–Laband syndrome, Murray–Puretic–Drescher syndrome, Rutherfurd syndrome, Cross, and Cowden syndrome have been associated with familial fibromatosis.[3910] This condition may present in a nodular form or symmetric form. In the nodular form, multiple localized enlargements occur in the gingiva, while in the symmetric form which is more common, uniform enlargement of the gingiva is seen.[11] In this case, the cause for the symmetric nature of enlargement was not identifiable and hence was diagnosed as idiopathic gingival fibromatosis.

Hereditary gingival fibromatosis is a rare entity having an incidence of 1:350,000 and prevalence of one per 175,000 of population with no sex predilection.[12] The exact genetic, biochemical, and molecular basis of gingival fibromatosis with hypertrichosis remains unclear although several mechanisms have been proposed. The accumulation and expansion of collagen may occur due to increased expression of TGF-β1 and enzyme prolyl-4-hydroxylase, increased fibroblastic stimulation, and reduced and altered collagen because of decreased expression of matrix metalloproteinases (MMPs) and stimulation of tissue inhibitor MMPs (TIMP) or an indirect fibroblastic stimulation as a result of interactions between keratinocytes and fibroblasts.[121314] Hypertrichosis may be the result of increased number of hair follicles with normal levels of androgen such as hormones or due to dosage-sensitive genes on the distal portion of chromosome 17q.[11]

The enlargement occurs more frequently with the eruption of the permanent dentition and does not directly affect the alveolar bone.[3] In the present case, the slow and progressive growth started in the mixed dentition stage, resulting in delayed eruption of permanent teeth, thereby influencing their alignment. The treatment modality depends on the extension and severity of the lesion. The treatment should preferably begin after the eruption of the permanent teeth so as to avoid recurrence.[15] Irrespective of the various modalities available for excision of the hyperplastic tissue, the aim of the treatment is to restore the gingival contour. In this case, sequential gingivectomies were performed with reinforcement of oral hygiene at every visit. The patient was kept under regular follow-up visits and there was no recurrence seen postoperatively. The patient was satisfied with the treatment as it met her functional, esthetic, and social concerns. For the management of hypertrichosis, she was advised to consult a dermatologist for sequential hair removal therapy.

CONCLUSION

Hereditary gingival fibromatosis with hypertrichosis is a rare disease entity characterized by varied degree of gingival overgrowth and generalized hair growth, resulting in impaired function and unaesthetic appearance. This condition is treated by removal of the hyperplastic tissue via surgical intervention. Following treatment, regular recall visits with reinforced oral hygiene measures proved to be effective in reducing its recurrence rate.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.