Authors :
Dr. Aastha Gajavalli; Dr. Suchetha Aghanashini; Dr. Sapna Nadiger; Dr. Apoorva S. K.; Dr. Shreekrishna K.
Volume/Issue :
Volume 11 - 2026, Issue 3 - March
Google Scholar :
https://tinyurl.com/3hjnb55y
Scribd :
https://tinyurl.com/3hwtb228
DOI :
https://doi.org/10.38124/ijisrt/26mar1240
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Aim
To describe a rare presentation of gingival angiofibroma in a patient with tuberous sclerosis complex, highlight the
diagnostic relevance of oral manifestations in TSC, and demonstrate the clinical and histopathological outcomes following
conventional gingivectomy in managing associated gingival overgrowth.
Background
Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant genetic disorder characterized by
mutations in the TSC1 and TSC2 genes which leads to dysregulation of the mechanistic target of rapamycin (mTOR)
pathway resulting in cellular hyperplasia and the formation of benign tumors in various organs. Oral manifestations,
although less frequently emphasized, may serve as important diagnostic indicators.
Case Description
This report presents the case of a 33-year-old female with TSC who exhibited prominent gingival overgrowth in the
maxillary anterior region, contributing to aesthetic and functional concerns. Conventional gingivectomy using a scalpel was
performed to excise the gingival enlargements in maxillary anterior region to re-establish normal contour. The postoperative
period was uneventful, and significant improvement in gingival architecture and facial appearance was observed.
Microscopic examination revealed parakeratinized stratified squamous epithelium with short rete ridges and numerous
pigmented melanocytes. These features were consistent with angiofibroma of the maxillary anterior gingiva, correlating with
the clinical presentation.
Conclusion
Management of TSC requires a multidisciplinary approach, given its varied systemic and oral manifestations. Early
diagnosis, seizure control with appropriate antiepileptics, and timely intervention for oral lesions are critical in improving
long-term outcomes.
Clinical Significance
This case emphasizes that oral angiofibromas and gingival enlargements can serve as early, easily overlooked markers
of tuberous sclerosis. Recognizing these characteristic oral lesions helps differentiate them from other gingival overgrowths
and supports timely diagnosis, appropriate management, and multidisciplinary care.
Keywords :
Tuberous Sclerosis, Seizure, Gingival Enlargement, Gingivectomy, Genetic Condition.
References :
- Gomes I, Jesus Ribeiro J, Palavra F. Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge. J Multidiscip Healthc. 2022 Jul 14; 15:1469-1480.
- Gruber V, Scholl T, Samueli S, Gröppel G, Mühlebner A, Hainfellner JA, Feucht M. Pathophysiology of neurodevelopmental mTOR pathway-associated epileptic conditions: Current status of biomedical research. Clin Neuropathol. 2019 Sep/Oct;38(5):210-224.
- Luo C, Ye WR, Shi W, Yin P, Chen C, He YB, Chen MF, Zu XB, Cai Y. Perfect match: mTOR inhibitors and tuberous sclerosis complex. Orphanet J Rare Dis. 2022 Mar 04;17(1):106.
- Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA., International Tuberous Sclerosis Complex Consensus Group. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021 Oct; 123:50-66.
- Cascarino M, Leclerc-Mercier S. Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama. Dermatopathology (Basel). 2021 Jul 04;8(3):236-252.
- Kassiri J, Snyder TJ, Bhargava R, Wheatley BM, Sinclair DB. Cortical tubers, cognition, and epilepsy in tuberous sclerosis. Pediatr Neurol. 2011 May;44(5):328-32
- Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR. Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol. 1997 Feb;12(2):85-90.
- Rebaine Y, Nasser M, Girerd B, Leroux C, Cottin V. Tuberous sclerosis complex for the pulmonologist. Eur Respir Rev. 2021 Sep 30;30(161)
- Gupta N, Henske EP. Pulmonary manifestations in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):326-337.
- Uysal SP, Şahin M. Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci. 2020 Nov 03;50(SI-2):1665-1676.
- López E, Escovich L, Vigna A. Tuberous sclerosis: presentation of a clinical case with oral manifestations. Med Oral 2003; 8:122–128.
- Araújo Lde J, Muniz GB, Santos E, Ladeia JP, Martelli H Jr, Bonan PR. Tuberous sclerosis complex diagnosed from oral lesions. Sao Paulo Med J 2013; 131:351–355.
- Damm DD, Tomich CE, White DK, Drummond JF. Intraosseous fibrous lesions of the jawsA manifestation of tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999; 87:334–340.
- Harutunian K, Figueiredo R, Gay-Escoda C. Tuberous sclerosis complex with oral manifestations: a case report and literature review. Med Oral Pathol Oral Cir Bucal 2011;16: e478–e481.
- Scully C. Oral mucosal lesions in association with epilepsy and cutaneous lesions: the Pringle-Bourneville syndrome. Int J Oral Surg 1981; 10:68–72.
- Nico MM, Hammerschmidt M, Lourenço SV. Oral mucosal manifestations in some genodermatoses: correlation with cutaneous lesions. Eur J Dermatol 2013; 23:581–591
- Barron RP, Kainulainen VT, Forrest CR, Krafchik B, Mock D, Sandor GK. Tuberous sclerosis: clinicopathologic features and review of the literature. J Craniomaxillofac Surg 2002; 30:361–366.
- López-López J, Rodriguez-de-Rivera-Campilo E, Marques-Soares MS, Finestres-Zubeldia F, Chimenos-Küstner E, Rosello-Llabres X. Tuberous sclerosis and its oral manifestations. A clinical case. Med Oral 2004; 9:216–223.
- Sparling JD, Hong CH, Brahim JS, Moss J, Darling TN. Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol 2007; 56:786–790.
- Lygidakis NA, Lindenbaum RH. Oral fibromatosis in tuberous sclerosis. Oral Surg Oral Med Oral Pathol 1989; 68:725–728.
- Curi MM, Cardoso CL, Ikuta CRS, Koga DH, Zardetto C. Tuberous Sclerosis: A case report with oral manifestation. Int J Odontostomatol 2014; 8:185–189.
- De Waele L, Lagae L, Mekahli D. Tuberous sclerosis complex: the past and the future. Pediatr Nephrol. 2015 Oct;30(10):1771-80.
- Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006 Sep 28;355(13):1345-56.
- Ng KH, Ng SM, Parker A. Annual review of children with tuberous sclerosis. Arch Dis Child Educ Pract Ed. 2015 Jun;100(3):114-21.
- James, J; Jose, J; Gafoor, VA. Levetiracetam-induced gingival hyperplasia. Journal of Postgraduate Medicine 68(3): p 168-169, Jul–Sep 2022.
Aim
To describe a rare presentation of gingival angiofibroma in a patient with tuberous sclerosis complex, highlight the
diagnostic relevance of oral manifestations in TSC, and demonstrate the clinical and histopathological outcomes following
conventional gingivectomy in managing associated gingival overgrowth.
Background
Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant genetic disorder characterized by
mutations in the TSC1 and TSC2 genes which leads to dysregulation of the mechanistic target of rapamycin (mTOR)
pathway resulting in cellular hyperplasia and the formation of benign tumors in various organs. Oral manifestations,
although less frequently emphasized, may serve as important diagnostic indicators.
Case Description
This report presents the case of a 33-year-old female with TSC who exhibited prominent gingival overgrowth in the
maxillary anterior region, contributing to aesthetic and functional concerns. Conventional gingivectomy using a scalpel was
performed to excise the gingival enlargements in maxillary anterior region to re-establish normal contour. The postoperative
period was uneventful, and significant improvement in gingival architecture and facial appearance was observed.
Microscopic examination revealed parakeratinized stratified squamous epithelium with short rete ridges and numerous
pigmented melanocytes. These features were consistent with angiofibroma of the maxillary anterior gingiva, correlating with
the clinical presentation.
Conclusion
Management of TSC requires a multidisciplinary approach, given its varied systemic and oral manifestations. Early
diagnosis, seizure control with appropriate antiepileptics, and timely intervention for oral lesions are critical in improving
long-term outcomes.
Clinical Significance
This case emphasizes that oral angiofibromas and gingival enlargements can serve as early, easily overlooked markers
of tuberous sclerosis. Recognizing these characteristic oral lesions helps differentiate them from other gingival overgrowths
and supports timely diagnosis, appropriate management, and multidisciplinary care.
Keywords :
Tuberous Sclerosis, Seizure, Gingival Enlargement, Gingivectomy, Genetic Condition.