Periodontal management of gingival enlargement associated with Sturge-Weber syndrome.

The Sturge-Weber syndrome is a rare uncommon neurocutaneous disorders with angiomas involving the leptomeninges (Leptomeningeal Angiomas) and skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The cutaneous angioma is called a Port-Wine Stain. It is commonly referred to as "Sturge-Weber syndrome after Sturge and Weber who first described this affliction in 1879. This article present a case of Sturge-Weber syndrome associated with gingival enlargement, its management and follow-up results.

INTRODUCTION

Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by leptomeningeal hemangiomas; a facial Port-Wine nevus distributed over the trigeminal nerve area, usually unilateral; and buphthalmos. This syndrome is also called encephalotrigeminal angiomatosis.[1] These hemangiomas cause neurological abnormalities, including epilepsy, mental retardation, and hemiplegia. Resection of gingival tissue and professional oral care are required because of enlargement of the soft tissue as a result of hemangiomas.

Facial lesions are the other characteristic feature of this syndrome and include rosy-purple nevus flammeus lesions that are sharply demarcated and usually flat; these occur on the ipsilateral side of the face in 90% of the patients.[2] In some cases, they may extent onto the neck, chest, and back. The colour varies from pink to purplish-red and may decrease in intensity with increasing age. Cushing[3] noted that the nevi tend to occur along the distribution of trigeminal nerve. However, Alexander and Norman[4] found the trigeminal relationship to be secondary. They assumed that the distribution of the facial nevus was determined, in part, by the position of the processes and fissures in the developing face. The facial features also may include hemihypertrophy of the involved side of the face. Ocular involvement may present in the form of choroidal angioma, glaucoma, hemianopsia, or buphthalmos (enlargement of the coating of the eye).[4]

Intraorally, angiomatosis on the buccal mucosa and lips may present as a purplish-red discolouration, which also may involve the soft palate, tongue, floor of the mouth, and gingiva. Gingival lesions may range from slight vascular enlargement to very large growths making closure of the mouth impossible.[56] In addition to being disfiguring and uncomfortable, moderate to severe forms of gingival overgrowth impair nutrition and oral hygiene leading to increased accumulation of microbes, increased susceptibility to oral infections and potential impairment of the systemic health of the affected individual. The gingival overgrowth may be attributed to angiomatous proliferation of involved gingival tissue, drug-induced gingival overgrowth because the affected individuals usually have epileptic seizures and frequently are taking antileptic medications, or a combination of both.

SWS are referred to as a complete when both CNS and facial angiomas are present and incomplete without the other. The Roach Scale used for classification, as follows:[7] Type I - Both facial and leptomeningeal angiomas; may have glaucoma, Type II - Facial angioma alone (no CNS involvement); may have glaucoma, Type III - Isolated leptomeningeal angioma; usually no glaucoma. From a perspective of anaesthetic management of the patient during dental treatment, SWS involves specific problems that need to be considered.

Pathophysiology

SWS is caused by residual embryonal blood vessels and their secondary effects on surrounding brain tissues. Angiomas of SWS result due to failure of regression of a vascular plexus around cephalic portion of neural tube which is destined to become facial skin. This vascular plexus normally forms at 6th week of intrauterine life and regresses by 9th week. Failure of its regression results in residual vascular tissue which forms angiomas of leptomeninges, face and ipsilateral eye.[8] These blood vessels show abnormal blood flow pattern as vasomotor phenomenon, venous occlusion, thrombosis and “vascular steal phenomenon” resulting ischemia, gliosis, atrophy and calcification of underlying cortical tissues. Although the leptomeningeal angioma in SWS is typically a static lesion, it has been demonstrated by some to be of progressive nature.[9] The main ocular manifestations buphthalmos and glaucoma occur due to secondary increase intra ocular tension due to increased secretion of aqueous humour by choroidal haemangioma.

CASE REPORT

A forty three year old female patient reported to the Department of Periodontics, JKKN Dental College and hospitals, complaining of swollen and bleeding gums in the maxillary right back tooth region for the last two years. The patient did not complain of any pain and difficulty during mastication. The patient was noticed the swelling before two years and gradually attain to present size. The swelling in the associated region had been gradually increasing since that time.

Medical history

The patient apparently was healthy. She was mentally normal. There was no history of seizures. She was born full term and delivered normally.

Clinical examination

The patient was observed to have a normal intelligence, a moderate build, and normal temperature, pulse, respiration and blood pressure. On extra oral examination, a hemihypertrophy was observed on the right side of the face with Port-Wine Stain [Figure 1]. Her mouth was deviated towards the right side of the face. There was increased malar prominence with increased nasal bridge width. Intra oral examination revealed soft, non-tender gingival enlargement involving right upper quadrant of the oral cavity [Figure 2]. Supra gingival calculus and plaque were noticed in both of the arches. Purplish – red discoloration was observed over the buccal mucosa on the right side and also present in the marginal gingiva, attached gingiva, and interdental papilla of 14 to 17 [Figure 3].

Figure 1

Extra oral view showing port wine stain in the right side of face

Figure 2

Intra oral view showing gingival enlargement in the right upper posterior region

Figure 3

Intra oral view – Port wine stain on the right buccal mucosa

Investigations

Investigation that were carried out in this case included an orthopantomograph (OPG), Intra oral peri-apical radiographs (IOPA), complete hemogram, and a spiral computed tomography (CT) scan. The OPG revealed hemi facial hypertrophy in the right side of face [Figure 4]. The complete hemogram showed normal haemoglobin levels with no other abnormality in the total or differential white blood cell counts. Bleeding and clotting time were within normal limits. Spiral CT scan showed no abnormalities like calcification, atrophy with dilatation of ventricle and enlargement of sinuses [Figure 5]. Ophthalmologist investigated for any ocular disturbances like choroidal angioma, glaucoma, hemianopsia, or buphthalmos (enlargement of the coating of the eye), but no abnormalities were detected.

Figure 4

Orthopantomograph showing enlarged right condyle with normal interdental bone

Figure 5

CT scan of brain showing no abnormal calcification

Differential diagnosis

The finding of the various investigations and the clinical examination confirmed the diagnosis of SWS. However, Klippel-Trenaunay-Weber syndrome[7] has a striking resemblance to SWS. Transitory nevus flammeus lesions during the neonatal period are common; however, they may not be as intense in colour as the Sturge-Weber lesion, which tends to be darker and most frequently is unilateral in distribution. The association of angiomatosis with other lesions may occur in disseminated hemangiomatosis, neurofibromatosis, Bannyan-Rily-Ruvalcaba syndrome[1011] and Coats disease.[12]

Histopathological examination

Histopathological examination of the excised tissue revealed normal epithelium with underlying connective tissue composed mainly of dilated and engorged blood vessels and a patchy distribution of chronic inflammatory cell infiltrate [Figure 6].

Figure 6

Microscopic view shows dilated, engorged blood vessels with chronic inflammatory cell infiltrate

Periodontal management

The complete treatment procedures were explained to the patient, a written informed consent was obtained from the patient, and a medical consent was obtained from the general physician.

Initially, a thorough scaling and root planing were done carefully to remove any local irritating factors that may have been responsible for the superimposed gingival inflammation. The patient was educated regarding good oral hygiene maintenance practices. The excisional biopsy was taken in relation to buccal side of 16, 17 by internal bevel incision. This biopsy was done under strict aseptic conditions using local anaesthesia (Lignocaine and adrenaline 1:80,000). The excised tissue was kept in 10% formalin and sent for histopathological examination. The patient was kept under observation for 24 hrs to watch for any bleeding from the biopsy site. However no post biopsy complications were observed.

After one week, as the initial healing took place in the biopsy site, the patient was appointed for surgical intervention under antibiotic coverage (Amoxicillin 500 mg, three times a day) one day prior to the surgery. An internal bevel gingivectomy was performed in the region of teeth # 13 to 17 under strict aseptic conditions and local anaesthesia. There was profuse intraoperative bleeding that was controlled with the help of pressure packs. She was advised to continue the antibiotic-analgesic regimen (Amoxicillin 500 mg, three times a day; Ibuprofen 250 mg + Paracetamol 250 mg, three times a day) for seven days and to use 0.2% chlorhexidine mouth rinse for two weeks post operatively. The healing was satisfactory without any overt complications. The patient was advised to return for a check-up every three months thereafter to look for any sign of recurrence of the gingival enlargement up to 12 months [Figure 7]. No recurrence was noticed after 12 months of follow-up [Figure 8].

Figure 7

Post-operative view after one month

Figure 8

Post-operative view after 12 months

DISCUSSION

SWS is an uncommon, non-familial, congenital condition of unknown etiology. It is a typical neurocutaneous syndrome defined as capillary or cavernous hemangiomas affecting primarily, but not limited to, cutaneous distributions of the trigeminal nerve. It is sometimes associated with venous malformations involving leptomeninges that lead to progressive destruction of the adjunct cerebral cortex.[13] It has usually unilateral distribution along one or more segments of trigeminal nerve.[14] Occasionally bilateral involvement or additional Port-Wine lesions are found elsewhere in the body. Bioxeda et al.,[15] found facial PWS distributed predominantly over the distribution of V2 branch of the trigeminal nerve in 88% of a total of 121 patients with PWS affecting skin. The lesions were unilateral in 86% of the patients. Extra-facial PWS was more common when the V3 division was involved.

In the present case, a careful history to eliminate the CNS involvement (headache, seizures) was recorded and consultations with the neurologist were done to rule out the same. In extra oral examination, there was no ocular involvement with buphthalmos and glaucoma as confirmed by ophthalmologist. The fact that PWS was unilateral, present since birth, spanning V2 division of the trigeminal nerve, not have any CNS manifestations but leading to intra-oral clinical finding of increased bleeding on probing and gingival enlargement in the affected quadrant (right maxillary) lead to a diagnosis of SWS Type II in the reported case. Because there is no definitive treatment for the facial disfigurement only symptomatic treatment and psychological counselling can be given.

CONCLUSION

Although a rare disease, SWS is important to the Periodontist because of its associated gingival vascular features and complications in the form increased susceptibility to oral infections, increased accumulation of plaque and microbes which additionally can impair the systemic health of the affected individual. The periodontal surgical management of SWS enlargement should be performed with caution. The periodic recheck-up has to be done to prevent any further oral complications.