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| CASE REPORT |
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| Year : 2018 | Volume
: 30
| Issue : 2 | Page : 189-192 |
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Oral lesions in tuberous sclerosis
Lakshmi S Reddy1, Tulika Singh1, Vinod K Reddy2, Sachin Mittal1
1 Department of Oral Medicine Radiology, Shree Bankey Bihari Dental College, Ghaziabad, India
2 Department of General Surgery, Rama Medical College, Hapur, Uttar Pradesh, India
| Date of Submission | 18-Jan-2018 |
| Date of Acceptance | 17-Feb-2018 |
| Date of Web Publication | 16-Jul-2018 |
Correspondence Address:
Dr. Lakshmi S Reddy
B 2006, ATS Haciendas, Indirapuram, Ghaziabad - 201 014, Uttar Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jiaomr.jiaomr_24_18
 Abstract | | |
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous syndrome with an approximate incidence of 1 in 10,000–50,000. The cardinal features of TSC are skin lesions, convulsive seizures, and mental retardation. Here, we report a case of TSC in a male patient who presented with oral and cutaneous manifestations without mental retardation or history of convulsive seizures, which is very rarely reported to the best of authors' knowledge.
Keywords: Angiofibroma, astrocytoma, hamartomas
How to cite this article:
Reddy LS, Singh T, Reddy VK, Mittal S. Oral lesions in tuberous sclerosis. J Indian Acad Oral Med Radiol 2018;30:189-92 |
| Introduction | |  |
Tuberous sclerosis complex (TSC) or Bourneville's disease was first described in 1880 by Désiré–Magloire Bourneville. It is a rare genetic disorder affecting both sexes and all ethnic groups. It involves brain, skin, kidneys, heart, eyes, and lungs, and becomes apparent only in late childhood, limiting the usefulness for early diagnosis in infancy.[1]
| Case Report | | |
A 32-year-old male patient of Asian origin reported with the chief complaint of dirty teeth since 1 year. The blackish discoloration of teeth was associated with foul smell and bleeding from gums during brushing. Patients past medical, dental history and personal history were noncontributory. Familial history reveals sudden death of one of his brothers and disease was undiagnosed. His 12-year-old daughter has convulsions since her childhood. On general physical examination, cluster of nodular growths are seen on nape of neck on the right side [Figure 1]. These growths are present from his childhood.
Extraoral examination revealed multiple well-defined brownish black nodular growths on nose and cheeks in a characteristic butterfly pattern and on the chin [Figure 2]. All the siblings and his father had similar nodules on nose and cheeks since their childhood. Lymph nodes were nonpalpable and no abnormality was detected in temporomandibular junction examination. | Figure 2: Nodules on nose and cheeks in a characteristic butterfly pattern
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Intraoral soft tissue examination revealed well-defined, grayish-black, sessile fibrous growths on right and left buccal mucosa [Figure 3] and [Figure 4], on lower labial mucosa [Figure 5], and on marginal gingiva of maxillary anterior teeth on both labial and palatal side [Figure 6]. These nodules are firm, mobile, and nontender. On intraoral hard tissue examination, normal compliment of teeth seen. Multiple enamel pits are found on labial aspect of maxillary [Figure 7] and mandibular anterior teeth [Figure 8]. Dental caries in relation to 37, 47, 34 and cervical abrasion in relation to 14. | Figure 6: Nodular growth on gingiva of maxillary anterior teeth on palatal side
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 | Figure 7: Multiple enamel pits on labial aspect of maxillary anterior teeth
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 | Figure 8: Multiple enamel pits on labial aspect of mandibular anterior teeth
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Based on the diagnostic criteria, a provisional diagnosis of tuberous sclerosis was given. Our case showed only skin and oral lesions, so our line of treatment relays on regular screening of patient's behavioral, cognitive, and neurological functions. Magnetic resonance imaging of the brain will be performed every year to assess the risk factors for developing astrocytomas. The prognosis is good, as the patient presented with only oral and cutaneous manifestations without any mental retardation or convulsive seizures.
| Discussion | | |
The inheritance of tuberous sclerosis is determined by single autosomal dominant gene, with variable expression. It is recognized that about half of the TSC families are linked to 9q34 (TSC1) and other half to 16p13 (TSC2). TSC1 gene has not yet been coded but TSC2 gene encodes a protein named “tuberin” that shows homology to the catalytic domain of the GTPase activating protein Rap1, which is involved in the regulation of cell proliferation and differentiation.[2]
Multiple hamartomas are seen in various organs including the brain (cortical tubers, lung lymphangioleiomyomatosis (LAM), subependymal giant cell astrocytomas (SEGAs)), subependymal nodules, kidneys (renal angiomyolipomas), heart (cardiac rhabdomyomas), and skin.[3],[4]
Onset is before the age of 5 years with cutaneous changes or with epilepsy is usual, although the disease may remain latent until adolescence.
Diagnostic criteria
Outside of positive genetic testing confirming a pathological TSC1 or TSC2 mutation, the clinical diagnosis of TSC relies on a combination of identifiable major and minor characteristics.
Major criteria[5]
Hypomelanotic macules (≥3, at least 5 mm diameter)
Angiofibromas (≥3) or fibrous cephalic plaque
Ungual fibromas (≥2)
Shagreen patch
Multiple retinal hamartomas
Cortical dysplasias
Subependymal nodules
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma
Lymphangioleiomyomatosis
Angiomyolipomas
Minor features
Confetti skin lesions
Dental enamel pits (>3)
Intraoral fibromas (≥2)
Retinal achromic patch
Multiple renal cysts
Nonrenal hamartomas
To establish a “definite” clinical diagnosis of TSC, one must document either two major features or one major feature with two or more minor features.[5],[6] Our patient presented classical cutaneous finding of multiple angiofibromas on his face. These hamartomatous lesions are preferentially located on the nasolabial folds, malar regions (where they usually present symmetrically, in the form of “butterfly wings”), and the nose and chin.[7],[8] Multiple dental enamel pits and multiple intraoral fibromas were also seen fulfilling the diagnostic criteria proposed for diagnosing tuberous sclerosis.
Management is mostly symptomatic. mTORC1 inhibitors such as Rapamycin or Everolimus are commonly being used and topical 0.1% Rapamycin is used for facial angiofibromas.[6]
| Conclusion | | |
Thus, proper identification of clinical oral features such as dental enamel pits and angiofibromas may help toward achieving early diagnosis of this disease and ultimately toward starting appropriate screening examinations, treatment, and genetic counseling. Knowledge of various associations of tuberous sclerosis can be helpful in retrogradely establishing the diagnosis.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
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| 3. | Huang J, Manning BD. The TSC1-TSC2 complex: A molecular switchboard controlling cell growth. Biochem J 2008;412:179-190. |
| 4. | Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657-68. |
| 5. | Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49:243-54. |
| 6. | Cardis MA, De-Klotz CMC. Cutaneous manifestations of tuberous sclerosis complex and the paediatrician' s role. Arch Dis Child 2017;102:858-63. |
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| 8. | Narayanan V. Tuberous sclerosis complex: Genetics to pathogenesis. Pediatr Neurol 2003;29:404-09. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
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