Gingival enlargement in partial hemifacial hyperplasia.

Hemifacial hypertrophy is a rare developmental disorder, characterized by unilateral enlargement of facial tissues. The hemifacial hyperplasia is classified as true hemifacial hypertrophy and partial hemifacial hypertrophy. It is unilateral enlargement of viscerocranial condition in which not all structures are enlarged. We present a rare case of gingival enlargement in partial hemifacial hyperplasia highlighting the clinical and radiological findings with the corrective treatment offered for gingival enlargement.

INTRODUCTION

Hemifacial hyperplasia (HFH), described initially by Meckel in 1822 and Wagner in 1839 is a sporadic condition.[12] Rowein 1962 classified hemihypertrophy into complex hemihypertrophy, involving the entire half of the body; simple hemihypertrophy, affecting one or both limbs; and hemifacial hypertrophy (HFH).[3] He further sub-classified HFH into (1) True hemifacial hypertrophy (THFH), exhibiting unilateral enlargement of the viscerocranium, bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline and laterally by the ear, including the pinna with enlargement of all tissues, teeth, bones and soft tissue in this area and (2) partial hemifacial hypertrophy (PHFH) if not all structures are enlarged to the same degree or are limited to 1 structure. In 1947, Ward and Lerner classified HFH into total and limited types of hypertrophy, where total HFH involved hyperplasia of all tissues of the face, whereas limited HFH did not involve all facial tissues.[4] They further subdivided these into (1) total hypertrophy (with multisystem involvement); (2) segmental, crossed hemihypertrophy of the entire side and (3) limited hypertrophy involving single and/or multiple organ systems without involving all the organ systems together. Usual deformities are noted to involve muscular, skeletal, vascular and neurological systems.

CASE REPORT

A 20-year-old girl from the state of Assam, India, reported to Mahendra Mohan Choudhary Hospital, Guwahati, Assam. Her chief complaint was gingival enlargement in the upper right region since 3 to 4 years with difficulty in maintaining oral hygiene and unilateral mastication from left side. History suggested that the patient noticed the facial asymmetry 3-4 years back. The gingival enlargement also appeared gradually and increased to the present size and not associated with any kind of pain. Further history revealed that the patient was unmarried and has never taken any medications that could cause gingival enlargement suggesting any idiopathic etiology for the condition.

Physical examination did not reveal any abnormal findings in general condition, mental health. Clinical examination revealed facial asymmetry, with enlargement of the right side of the face [Figure 1]. Right scleral show was present. The nose on the affected side was asymmetric, with thickening of the ala and the base of the nose. The size of the nostril appeared to be equal. Both upper and lower lips appeared normal. No other facial deformity was noted.

Figure 1

Pre-operative profile of the patient

Intra-oral examination revealed gingival enlargement in the right upper quadrant extending from the right central incisor till the 2nd molar [Figure 2]. The enlargement covered two thirds of the clinical crowns of the above mentioned teeth. The probing depth was measured with a periodontal probe which revealed combined type of pockets in the enlargement region [Figure 3]. Also, a localized enlargement was noted in the lower right anterior region covering the crowns of lateral incisor and canine. The growth was more evident on the buccal surface than palatal. On palpation, the tissues were firm and fibrous in consistency, extending onto the attached gingival and vestibule. This caused difficulty in maintaining proper oral hygiene and also mastication. The teeth appeared to be of normal size. No significant occlusal discrepancy was noted. Size of the tongue appeared normal.

Figure 2

Intra-oral appearance with the extent of involvement

Figure 3

Probing to note the pockets

Orthopantomogram (OPG) revealed no significant abnormalities. No bony changes were appreciated [Figure 4]. Clinical and radiological examination confirmed enlargement was limited to the soft tissues and there was no hard tissue involvement. Microscopic findings showed irregular acanthosis and papillomatosis of stratified squamous epithelium. Underlying fibrous stroma infiltrated by predominantly inflammatory infiltrate of lymphocytes and plasma cells, leading to the diagnosis of inflammatory fibrous hyperplasia.

Figure 4

Orthopantomograph showing the bony mandible is not involved

Laboratory studies did not reveal any significant deviation from normal.

TREATMENT

Considering the severity of the enlargement and combined pockets involved, two surgical periodontal procedures were planned and carried out in two appointments. Anticipating the resultant bleeding during surgery, combination of gingivectomy and open debridement flap was planned for elimination of the soft tissue enlargement under local anesthesia. The patient underwent thorough scaling along with intraoral disinfection with 0.12% chlorhexidine mouth rinse and was posted for immediate surgical correction as there was no inflammatory component. Gingivectomy procedure included external bevel incision.

Periodontal probe was used to outline the base of the pockets and a series of small bleeding points were created on the gingival enlargement to guide the removal of excess tissue covering the tooth surface. This was followed by open debridement of the periodontal flap with internal bevel incision, eliminating the true pockets and creating accessibility for scaling and root planing. The flap was sutured with resorbable sutures and there was no secondary intension healing. Oral hygiene instructions were given to the patient and the patient was recalled after 2 weeks, 2 months and 6 months.

No signs of recurrence were noted during this period [Figures 5 and 6].

Figure 5

Post-operative profile of the patient

Figure 6

Post-operative intra-oral view showing no signs of recurrence after 6 months

DISCUSSION

Facial hemihyperplasia, formerly known as hemihypertrophy, is a rare congenital anomaly that causes asymmetry resulting from the exaggerated growth of all tissues or part of the tissues on the affected side.[5] According to Pollock et al., the change in the nomenclature was proposed by Like-Geiser et al. in 1970, who considered the term hemihypertrophy to be inadequate because of the morphological characteristics of the compromised tissues, in which the increase in cell number was more significant than the increase in cell volume, and therefore suggested that the term hemihyperplasia is more adequate for this condition.[6] The etiology of HFH is unknown, but various causes have been put forward to explain it including endocrine imbalance, neural abnormalities, asymmetric cell division and deviation of twinning process, chromosomal abnormalities and vascular or lymphatic abnormalities. Since first reported in 1822, about 50 cases of this condition have been reported in the literature. True facial hemihyperplasia is defined as overgrowth of all tissues of one side of the face (skin, bone, nerves, vessels and adipose tissue), whereas in partial facial hemihyperplasia, overgrowth of one or more, but not all, facial structures is observed. Partial facial hemihyperplasia is even rarer than the true form, with only 9 cases being reported in the literature according to Lee et al.[7] Asymmetry is noted at birth and becomes more evident over the years. This disproportional growth continues until complete cessation of the patient's growth, resulting in permanent asymmetry. In some patients with hemihyperplasia only the face is involved. However, a unilateral increase in facial volume is frequently associated with hypertrophy of a part of the body, emphasizing that the involved tissues are not affected in a uniform manner. This fact explains the marked variation in the clinical manifestations of this condition, which include mental retardation, skin thickening, increased skin pigmentation, enlargement of the mandibular canal and dental crowns and roots on the affected side, especially canines, premolars and first molars, as well as early tooth eruption, malocclusion, open bite and macroglossia.[8]

The treatment of HFH continues to be limited. The main aim is to follow the patient up for prolonged period until the growth has stopped. During this time, any functional corrections can be performed. Aesthetic correction according to the patient need is done only after the growth has ceased.

The gingival hypertrophy that is seen in patients with HFH is very rare and ranges from mild to severe. Not many authors mention the involvement of gingiva in HFH.[910] The enlargement usually affects both the upper and lower jaws with differing severity. Combination type of pockets is usually noted as during the advanced stages of enlargement it is almost impossible to maintain adequate oral hygiene, causing true pockets. The definitive treatment strategy will not differ from the usual treatment that is offered to patients with gingival enlargement.

HFH should be differentiated from a variety of systemic diseases as many times there is an overlap of clinical manifestations between HFH and these conditions. The differential diagnosis includes Beckwith-Wiedemann syndrome, Proteus syndrome, Schimmelpenning (epidermal nevus) syndrome, neurofibromatosis and hyperpituitarism. Since our patient did not show any significant changes elsewhere and since the serum chemistry was within normal limits, these conditions were excluded. In Proteus syndrome, the patient has asymmetry of the limbs, overgrowth of the hands or feet or both, lipomas, connective tissue nevi and vascular and lymphatic malformations.[11] In Beckwith-Wiedemann syndrome, patients usually have increased birth weight, postnatal gigantism, macroglossia, omphalocele and distinctive ear lobe grooves.[11] In Schimmelpenning syndrome (epidermal nevus), patients have epidermal nevi; sebaceous nevi are said to be the hallmark of the syndrome. Other common features of Schimmelpenning syndrome are seizures, developmental delay, hemangiomas, kyphosis/scoliosis and extension of nevus to the eyelid.[11]

CONCLUSION

Hemifacial hypertrophy is a rare deformity. The oral manifestations, especially with periodontal presentations are remarkable. The most common feature is gingival hypertrophy. The treatment is gingivectomy. The patient was followed up for 6 months without signs of recurrence. A greater follow up of these patients is needed to ascertain the treatment goals for this condition.