Case Report

Gingival Enlargement as a Manifestation of TuberousSclerosis: Case Report and Periodontal Management

Urszula B. Korol,* Robert Schoor,* Veena Nanda,* Khalid Almas,† and Joan A. Phelan‡

Background: Tuberous sclerosis is an autosomal-dominant inherited disease involving many organs ofthe body. Oral manifestations include gingival en-largement, fibromas, and dental enamel pitting. The re-port presents a case of tuberous sclerosis with gingivalenlargement histologically consistent with angio-fibroma, describes its successful periodontal manage-ment, and reviews the literature associated with oralmanifestations of tuberous sclerosis.

Methods: A 26-year-old white male presented to theDepartment of Periodontics and Implant Dentistry, NewYork University College of Dentistry, with a diagnosis oftuberous sclerosis and a chief complaint of gingival en-largement affecting mastication and esthetics. Follow-ing a complete medical history review, consultationwith the patient’s medical team at New York UniversityMedical Center, and a thorough oral and periodontalexamination, a treatment plan was developed thatincluded oral hygiene instructions, mechanical de-bridement, and periodontal reevaluation. This was fol-lowed by gingivectomy, which provided improvedfunction and esthetics. Excised tissue was submittedfor histologic examination. The patient was followed ev-ery 2 months for assessment of the outcome of the sur-gical treatment. An extensive search of the dental anddermatologic literature was performed on MEDLINE.

Results: Histologic examination of the gingival tis-sue revealed features consistent with angiofibroma. Fif-teen months following gingivectomy, the contours andgingival surface appearance remained normal.

Conclusions: The gingival enlargement was histo-logically consistent with the characteristic angiofi-bromas of tuberous sclerosis. The gingival enlargementresponded very well to gingivectomy and periodontalmaintenance. J Periodontol 2008;79:759-763.

KEY WORDS

Case report; gingival enlargement; gingivectomy;neurocutaneous syndromes; tuberous sclerosis.

Tuberous sclerosis (Bourneville’s disease) is oneof a group of related diseases known as neu-rocutaneous syndromes.1,2 The major disor-

ders in this group include neurofibromatosis types 1and 2, Sturge-Weber syndrome, ataxia-telangiectasia,Von Hippel-Lindau disease, and tuberous sclerosis.Tuberous sclerosis was described first by VonRecklinghausen in 18623 and in more recent reportsby Bourneville,4 Pringle,5 and Vogt.6

This condition results from a mutation in the tu-mor suppressor gene TSC1 or TSC2.7 An autosomal-dominant inheritance pattern has been documented;however, the disease etiology is thought to be a resultof spontaneous mutations in 70% of patients.8 The es-timated prevalence of tuberous sclerosis is 1 in 6,000individuals. As a disease entity, tuberous sclerosispresents with a variety of signs and symptoms in con-junction with facial angiofibromas distributed in a typ-ical butterfly pattern on the face and forehead (Fig. 1).The major presenting features also include hypomela-notic ash-leaf cutaneous maculae, Shagreen patchesin the lumbar area, cerebral cortical tubers, subepen-dymal nodules, and subependymal giant cell astro-cytomas. The other major features are cardiacrhabdomyomas and renal angiomyolipomas. Minorfeatures may include hamartomatous rectal polyps,non-renal hamartomas, and multiple renal and bonecysts.9-11 Oral manifestations include gingival en-largement, fibromas,12,14-18 and dental enamel pit-ting.18-20 Two major findings, or one major and twominor features, confirm the diagnosis of tuberoussclerosis.21-23 As a result of this disease and its neu-rologic involvement, epilepsy (60% to 70%), learningdisability (40%), destructive behavior, and self-harm(50%)24 may be associated with tuberous sclerosis,and these conditions may be very difficult to manage.In this report, we present a patient with gingival en-largement that was histologically consistent withangiofibroma, the characteristic dermatologic lesionof tuberous sclerosis. In previous reports in the litera-ture,16,17 the gingival enlargement was attributed tofibrous hyperplasia and not angiofibroma.

* Department of Periodontics and Implant Dentistry, New York UniversityCollege of Dentistry, New York, NY.

† Currently, Division of Periodontology, University of Connecticut School ofDental Medicine, Farmington, CT; previously, Department of Periodonticsand Implant Dentistry, New York University College of Dentistry.

‡ Department of Oral and Maxillofacial Pathology, Radiology and Medicine,New York University College of Dentistry. doi: 10.1902/jop.2008.070407

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CASE DESCRIPTION AND RESULTS

A 26-year-old white male was referred to the Postgrad-uatePrograminPeriodontics,New York UniversityCol-lege of Dentistry, in February 2006. The patient is oneof a group of persons under medical care at the Oncol-ogy Department, Bellevue Hospital, New York, NewYork, by a team of physicians and nurses affiliated withthe Tuberous Sclerosis Center, New York UniversityMedical Center, New York, New York. Patients with thisdisorder have access to the Comprehensive EpilepsyCenter at Bellevue Hospital for management of con-comitantneurologicand oncologic symptoms. The pa-tient was diagnosed with tuberous sclerosis at age 3years and is under therapy for hypertension, asthma,epilepsy, benign brain tumors, deafness, renal cysts,and skin lesions, all associated with tuberous sclerosis.Phenobarbital, hydrochlorothiazide, fluticasone, andsalmeterolwere the drug regimen prescribedby the pa-tient’s oncologist and general physician. The patient ishearing impaired but is communicative with an otic de-vice, fully alert, oriented, and cooperative. The patientcomplained of difficulty in mastication, oral malodor,and teeth covered over by gingival tissue. The extra-and intraoral examination revealed largeerythematousand fibrotic tumorous growths on the face and gingivalenlargements covering much of the incisor and cuspid

teeth. The gingival tissue enlargement was pro-nounced around teeth in the maxilla (Fig. 2), from cus-pid to cuspid on facial and palatal surfaces (Fig. 3), andfacial surfaces on the mandible. Periodontal probingdepths averaged ‡8 mm; however, the predominatingpockets resulted from gingival and not periodontitis-associated clinical attachment loss. The dentition ex-hibited enamel pitting, and the maxillary incisorshad unusual anatomy, almost a dens in dentin mor-phology. Orthodontic evaluation revealed an openbite relationship and rotation of the teeth. The full ra-diographic survey, consisting of long-cone parallelperiapical and bitewing radiographs, revealed normallevels of crestal bone height with no evidence of loss ofperiodontal attachment.

Heavy local accretions of adherent plaque andcalculus were declared the prime etiologies for the gin-gival overgrowth; however, the characteristic angiofi-broma of tuberous sclerosis was included in the clinicaldifferential diagnosis. The patient had no known his-tory of phenytoin, cyclosporin, or calcium channelblocker therapy, medications frequently related togingival pathosis. Gingival enlargement related tophenobarbital has been reported,25,26 but the inci-dence is rare or has been documented poorly.27

Initial therapy consisted of homecare instructionand scaling under local anesthesia. The specific home-care techniques consisted of mechanical toothbrushingand chlorhexidine 0.12% rinse. The gingival tissues

Figure 1.Angiofibromas of the face, forehead plaques, and gingival enlargement.

Figure 2.Gingival enlargement on the anterior aspect of maxilla and mandibleand dental enamel pitting.

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were reassessed 6 weeks after the mechanical de-bridement. Loe and Silness28 and Silness and Loe29

indices were used to qualify the patient’s responseto therapy and homecare compliance. Clinical inflam-mation resolved with minimal bleeding on probing,changes in tissue coloration from red to pink, and im-provement in tissue tone and surface texture.

The surgical methodology consisted of local anes-thesia with 3% mepivacaine, followed by 0.5 carpulesof 2% lidocaine with 1:50,000 epinephrine. The pa-tient was premedicated 1 hour prior to the procedurewith ibuprofen, 800 mg, for analgesia. Pockets wereeliminated using a scalpel and surgical scissors, thusexposing the dentition and thereby providing physio-logic gingival architecture and improving esthetics.Surgical sites were covered by a periodontal dressing,and the patient was given verbal and written home-care instructions. The excised tissue was submittedfor histology. At the 2-week postoperative appoint-ment, the patient reported an uneventful healing pe-riod with minimal discomfort using ibuprofen, 800mg, twice daily. Histologic examination revealed sur-face keratotic, acanthotic stratified squamous epithe-lium overlying edematous fibrous connective tissue(Fig. 4) containing numerous dilated capillaries sur-rounded by a fibroblastic proliferation and scatteredlarge, pleomorphic, stellate-shaped cells with multi-ple nuclei (Fig. 5). The histologic features were con-

sistent with a diagnosis of angiofibroma. At recallvisits at 2, 4, 6, 8, 10, 12, and 15 months, contoursand the gingival surface appearance remained withinnormal values (Fig. 6). The patient has maintainedfrequent recall for prophylaxis and restorative dentalcare. This recall frequency was instituted in our post-surgical protocol to assess gingival tissue rebound.Future recall scheduling will depend on patient com-pliance with daily homecare and professional recallmaintenance; however, the patient has been sopleased with regard to function and esthetics duringthis short post-treatment period that we are optimisticabout future compliance.

Figure 3.Gingival enlargement on the palatal aspect.

Figure 4.Photomicrograph showing dilated capillaries surrounded by afibroblastic proliferation and pleomorphic, stellate-shaped fibroblasts(hematoxylin and eosin; original magnification ·100).

Figure 5.Photomicrograph showing pleomorphic, stellate-shaped, andmultinucleated fibroblasts (hematoxylin and eosin; originalmagnification ·200).

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DISCUSSION

The histologic appearance of the gingival tissue in thiscase is different from that seen in familial or idiopathicgingival enlargement or those associated with medi-cations such as phenytoin, calcium channel blockers,or cyclosporin.30 The epithelium in this case did notshow the elongated, narrow, rete ridges that havebeen described for gingival enlargement due to other

causes. The numerous dilated capillaries and abun-dant, distinctive, pleomorphic, stellate-shaped cellswith multiple nuclei present in the gingival tissue inthis case are not seen in other forms of gingival en-largement. The case reported here is unusual in thatmost reports8,9,13,14,16,17 of gingival enlargement intuberous sclerosis describe non-specific gingival en-largement, not the histologic findings consistent withangiofibroma of tuberous sclerosis seen in this case. Inconsultation with the medical group treating this pa-tient, periodontal management of the oral pathosiswas essential for the patient’s well-being, functionallyand emotionally. His successful periodontal therapygives the medical and nursing group insight into whatmay be successful plastic facial surgery to be sched-uled at a later date. The 15-month follow-up postsur-gery is too short a period to rate a stable outcome(Fig. 7). Gingival tissue rebound may occur months oryears later. However, with effective homecare andscheduled preventive maintenance, we see no signsof the soft tissue rebound described in two previouspublications. Stirrups and Inglis17 reported reboundwithin 6 months after periodontal treatment for onepatient on a drug regimen for epileptic seizures, not in-cluding phenytoin. Recurrence of gingival enlarge-ment as early as 6 weeks after surgery was reportedby Thomas and Rapley16 in a patient with tuberoussclerosis who was taking phenytoin. Plaque controland strict adherence to professional preventive recallis our mandate for outcome stability.

CONCLUSIONS

This case report describes a patient with tuberoussclerosis and periodontal management of his intraoralpathosis. The gingival enlargement in this patient wasconfirmed histologically to be an oral manifestation oftuberous sclerosis. The therapy has been successfulin providing complete pocket elimination, physiologicgingival contours, and functional and esthetic satis-faction. The patient will be followed up, and progresswill be reported biannually.

ACKNOWLEDGMENT

The authors report no conflicts of interest related tothis case report.

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Figure 6.The 4-month recall.

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Correspondence: Dr. Robert Schoor, Department of Peri-odontics and Implant Dentistry, New York University Collegeof Dentistry, 345 E. 24th St., New York, NY 10010-4086.Fax: 212/998-4325; e-mail: nyugums@aol.com.

Submitted July 23, 2007; accepted for publication August28, 2007.

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