International Journal of Dental and Health Sciences Case Report Volume 02, Issue 03 HEREDITARY GINGIVAL FIBROMATOSIS ASSOCIATED WITH CONSANGUINITY: A RARE CASE REPORT Anila Sankaranarayanan1*,Nandakumar Krishnankutty2,Prasanth Dhanapal3, George Jacob M4 1Reader, Department of Periodontics, P.S.M. College of Dental Science and Research, Thrissur, India 2Principal, Azeezia Dental College, Kollam, India 3Professor, Dept. Of Conservative Dentistry & Endodontics, Annoor Dental College & Hospital, Muvattupuzha, India 4Reader, Dept of Conservative Dentistry & Endodontics, P.S.M. College of Dental Science and Research, Thrissur, India ABSTRACT: Hereditary gingival fibromatosis is a rare condition manifested by enlarged gingival tissues, and can occur as an isolated disease or as part of a syndrome. The condition is inherited as an autosomal dominant trait, which is more common, or as an autosomal recessive trait. This case report reports a case of a 16 year old boy with non-syndromic Hereditary gingival fibromatosis with a probable recessive mode of inheritance, as the patient’s parents reported a history of consanguineous marriage. The fibrotic gingival tissue was removed surgically, sextant wise under local anesthesia. After the surgical procedure the patient’s appearance was considerably improved. The case was followed up for 18 months at regular intervals and there was no evidence of recurrence of the gingival condition. Key words: Consanguinity, Fibromatosis, Gingival, Hereditary INTRODUCTION: consistency with presence of exaggerated stippling [4]. The usually painless Hereditary gingival fibromatosis (HGF) is a enlargement may extend up to the rare inherited condition, which results in mucogingival junction, but does not spontaneous and progressive involve the alveolar mucosa [5]. The enlargement of the gingiva [1]. Even excessive gingiva can cause aesthetic though traditionally considered an problems like diastema, lip prominence, autosomal dominant disease, it does phonetic problems and problems related manifest less commonly as an autosomal to mastication, in addition to recessive condition [2]. It can occur as an psychological disturbance [6]. The isolated trait or as part of a syndrome [3] enlargement can increase plaque The hyperplastic gingiva usually displays a retention thus inducing periodontitis and normal pink colour and has a firm halitosis [7]. *Corresponding Author Address: Dr.Anila.S,. Email: [email protected] Anila.S,. et al., Int J Dent Health Sci 2015; 2(3):674-680 Females and males are equally affected gave a history of delayed eruption of and the phenotype and genotype deciduous teeth and gingival enlargement frequency is 1:175,000 and 350,000 was also reported during deciduous respectively [8]. A mutation in the SOS-1 dentition. or son-of-sevenless gene on chromosome The patient’s medical and surgical history 2p21-p22 has been linked to HGF [2]. was non-contributory. The patient did not .Autosomal-dominant forms of gingival have hypertrichosis or mental retardation fibromatosis have been genetically linked and had no history of intake of to the chromosomes 2p21-p22 [9] and medications known to cause gingival 5q13-q22 [10, 11]. enlargement. Family history revealed Syndromes associated with HGF with consanguineous marriage of his parents. autosomal recessive inheritance include The patient had a sibling without this Cross syndrome, Ramon syndrome, similar gingival manifestation. Zimmerman-Laband syndrome,[12] and Extraoral examination revealed a convex Murray-Puretic-Drescher syndrome [7]. In profile with incompetent lips. Intaoral the recessive form with no other examination revealed generalized diffuse associated defects or syndromes, gingival enlargement symmetrically consanguinity is always present in the affecting both maxillary and mandibular family [13]. arches, on both buccal and palatal/lingual Union of individuals who are related to surfaces (Fig.1). The enlargement involved each other as close as or closer than marginal, attached and interdental gingiva second cousins is the arbitrary definition in both the arches, covering almost the of consanguinity. A patient with a genetic entire clinical crown except the disorder, whose parents had a incisal/occlusal areas. The enlargement consanguineous marriage, indicates a was most severe in lower lingual region strong evidence for that genetic disorder (Fig.2). Gingiva was pale pink in colour to have an autosomal recessive pattern of with pigmentations present within inheritance [14]. attached gingiva, it had a firm fibrous consistency with presence of stippling and Here we are reporting the clinical, was not tender to palpation. There was no histopathological features and dental mobility of any teeth. management of a 16 year old boy with HGF with a probable recessive mode of An orthopantomogram revealed normal inheritance. development of permanent teeth with missing lower right first molar. There was CASE DETAIL: no disharmony between the dental and A 16 year old male reported with skeletal ages and no gross bony complaints of gingival swelling since 3 deformity. Routine blood and urine years. The patient chief complaint was investigation showed all parameters with regard to poor aesthetics. Patient within normal limits. Since the patient’s 675 Anila.S,. et al., Int J Dent Health Sci 2015; 2(3):674-680 parents were second cousins, a pedigree and 18 months intervals. Clinically there analysis was done, which indicated a was no recurrence of the condition after strong evidence for an autosomal 18 months follow-up. recessive mode of inheritance. DISCUSSION: Full mouth gingivectomy under local The etiologic agents implicated in anaesthesia was planned and the generalized gingival fibromatosis include treatment plan explained to the patient inflammation, use of medications such as and parent. Gingivectomy was done phenytoin, nifedipine or cyclosporine [15], sextant wise under local anaesthesia in Wegener granulomatosis, acanthosis weekly intervals. An initial internal bevel nigricans and leukemic infiltration. incision was given, followed by a Hereditary gingival fibromatosis generally crevicular incision (Fig.3). After the tissue manifests as dominant form and recessive wedge was removed (Fig.4), the inner forms are usually associated with certain surface of the gingival flap was trimmed syndromes like Ramon syndrome to remove excess tissue, and the flap was (Cherubism, hypertrichosis, mental sutured back. deficiency, epilepsy and stunted growth), Patient was prescribed chlorhexidine 2% Cross syndrome (microphthalmia, oral rinse (for 1 week), antibiotics and athetosis, mental retardation and analgesics for 5 days after the surgical hypopigmentation) , Murray-Puretic- procedure in each sextant. There was Drescher syndrome (multiple hyaline uneventful healing post-surgically (Fig.5 & fibromas) [7]. 6). Suture removal was done after 1 week In this present case. the patient did not and plaque control instructions were present with any other feature suggesting reinforced. Post-operatively patient’s that the condition was part of any esthetics and masticatory function was syndrome. The pedigree analysis gives considerably improved. strong evidence that the condition is most Histopathologic examination showed likely to have an autosomal recessive pseudoepitheliomatous hyperplasia of mode of inheritance. parakeratinised stratified squamous The esthetic and functional problems epithelium with elongated rete pegs (Fig. associated with gingival enlargement 7). Densely collagenous, relatively include delayed eruption, malpositioning avasular connective tissue was noted with of teeth, cross/open bites, prominent lips numerous fibroblasts and chronic and incompetent lips. Extensive inflammatory cells (Fig. 8). An overall enlargement can result in decreased impression of fibroepithelial hyperplasia tongue space, difficulty in phonetics and was reported. (10X magnification) mastication. The enlargement can also The patient was put on a follow-up result in increased plaque accumulation program and was reviewed at 1, 2, 3, 6, 12 resulting in periodontitis. The patient 676 Anila.S,. et al., Int J Dent Health Sci 2015; 2(3):674-680 presented in this case report had external or internal bevel incisions. incompetent lips and was unhappy Electrocautery, apically positioned flap regarding gingival esthetics. and carbon dioxide laser have been tried for the excision of the enlarged gingival HGF usually presents with normal colour tissue [18]. We have used an internal bevel of gingiva with stippling and the clinical incision because the extensive gingival manifestation in the present case is enlargement would have resulted in consistent with this description. It usually exposure of a wide area of connective becomes evident at the time of eruption tissue if external bevel incisions were of permanent teeth. Presence of teeth used. appears to be necessary for this condition to occur as HGF is not seen before teeth Recurrence of HGF has been reported by eruption and recedes after removal of some authors, especially in children and teeth [13]. However in rare cases, it has teenagers. In severe cases, full mouth been reported at birth. HGF progresses extraction has been advocated, as it has rapidly during active eruption and been suggested that the condition does decreases with the end if this stage [1]. not recur after tooth extraction [13]. Correct physiologic contour of free gingiva HGF is benign histologically, with and good oral hygiene maintenance are accumulation of mature