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CASE REPORT
Year : 2016  |  Volume : 6  |  Issue : 1  |  Page : 60-62  

Tuberous sclerosis with oral manifestations: A rare case report


1 Department of Oral and Maxillofacial Surgery, Dasmesh Institute of Research and Dental Sciences, Faridkot, Punjab, India
2 Department of Neurosurgery, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India

Date of Submission24-Feb-2015
Date of Acceptance28-Jul-2015
Date of Web Publication15-Jan-2016

Correspondence Address:
Ramandeep Singh Dang
Department of Neurosurgery and Surgical Critical Care, Guru Gobind Singh Medical College and Hospital, Sadiq Road, Faridkot, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-516X.174018

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   Abstract 

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome, inherited as an autosomal dominant trait with a high incidence of sporadic cases and protean clinical expression, with a incidence of prevalence between 1 in 10,000 and 1 in 170,000. The cardinal features of TSC are skin lesions, convulsive seizures, and mental retardation. We report a sporadically occurring case of definite TSC in a young female who presented with oral and cutaneous manifestations without mental retardation or history of convulsive seizures, which to the best of our knowledge has not been reported so far.

Keywords: Convulsive seizures, mental retardation, neurocutaneous syndrome, tuberous sclerosis complex


How to cite this article:
Sodhi S, Dang RS, Brar G. Tuberous sclerosis with oral manifestations: A rare case report . Int J App Basic Med Res 2016;6:60-2

How to cite this URL:
Sodhi S, Dang RS, Brar G. Tuberous sclerosis with oral manifestations: A rare case report . Int J App Basic Med Res [serial online] 2016 [cited 2021 Oct 23];6:60-2. Available from: https://www.ijabmr.org/text.asp?2016/6/1/60/174018


   Introduction Top


Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome with a high incidence of sporadic cases. [1] It was first described in 1862 by von Recklinghausen and later was more completely elucidated by Bourneville, Pringle, and Vogt (Rushton, 1955). [2] It is a disorder of cellular differentiation and proliferation leading to the development of benign tumors such as neurofibromas and angiofibromas and with high penetrance but considerable variability in the expression. [3]

The genes thought to be responsible for tuberous sclerosis are located on chromosomes 9q and 16p. [4] The birth prevalence is as high as 1 in 5800 persons. [5],[6] The cardinal features of TSC are skin lesions, convulsive seizures, and mental retardation. [1] Ninety percent of tuberous sclerosis patients develop various seizure disorders, and 60% develop measurable mental retardation. [5],[6]

Tuberous sclerosis is characterized by variability and expressivity of clinical manifestations and is often age-related [Table 1]. [1] School-aged children usually present with adenoma sebaceum, developmental delay, learning disability/retardation, and seizures. [1] Orofacial manifestations include fibrous hyperplasia, hemangiomas, facial asymmetry, bifid uvula, cleft lip and palate, macroglossia, high arched palate, delayed eruption, diastemas, and enamel defects. [7]
Table 1: Diagnostic criteria for TSC


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   Case Report Top


An 18-year-old female reported to the Department of Oral and Maxillofacial Surgery at Dasmesh Institute of Research and Dental Sciences, Faridkot with the chief complaint of painless swelling on the left side of face since 8 years and reddish discoloration of skin on the same side of face and neck since birth with no positive family history [Figure 1].
Figure 1: Painless swelling on the left side of face

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History of repeated excisions of gingival growth was present since patient was 4 years old. On general physical examination, the patient was well-oriented to time, place, and person; moderately built with normal gait and IQ. She had a nodular swelling on the middle finger of the left hand. Magnetic resonance imaging (MRI) brain and carotid angiograph were suggestive of cortical and sub-cortical hyperintensities with gyral calcification; common with (c/w) tuberous sclerosis [Figure 2]. Orthopantomography showed a multilocular mixed radiolucent-radiopaque lesion with incomplete septae involving the left mandibular region eroding the posterior ramus of mandible causing an altered shape of the left mandibular ramus, condyle, and coronoid process [Figure 3].
Figure 2: Magnetic resonance imaging brain and carotid angiograph

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Figure 3: Orthopantomography showing a multilocular mixed radiolucent-radiopaque lesion

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As our case showed only skin lesions, our line of treatment is regular age-dependent screening to access the patient's behavioral, cognitive, and neurological functions. MRI of the brain will be performed every year to assess the risk factors for developing astrocytomas. In this case, the prognosis seems good, as the patient presented with only oral and cutaneous manifestations without any mental retardation or convulsive seizures.


   Discussion Top


The diagnosis of tuberous sclerosis has evolved from only clinical observations to the use of anatomicopathological studies to that using molecular biology. [8] The disease develops as an abnormal growth of ectodermic and mesodermic cells producing benign tumors extending to areas of the head, heart, brain, and kidneys. The term epiloia (epilepsy, low intelligence, and adenoma sebaceum) was proposed by Campbell and Sherlock. [9] This designation may be of some use in describing the disease although all the three signs are rarely present. The classic triad of epiloia is seen in only 30% of affected individuals. [8]

We report this case as a rare phenomenon because of its sporadic occurrence in a young female who presented with oral and cutaneous manifestations without mental retardation or history of convulsive seizures, which to the best of our knowledge has not been reported so far. Patients with TSC must adopt measures for careful oral and dental hygiene, with regular visits to the dentist, in order to eliminate potential irritative factors and ensure the early diagnosis of any possible lesions. [3] The cerebral manifestations and renal complications of tuberous sclerosis exert an important influence on patient prognosis. [10] The diagnosis and management of these patients vary depending on the specific systemic presentation of the disease. A dentist's role in early diagnosis of such lesion is helpful in the management of these lesions. Regular follow-up is helpful to prevent any systemic involvement if any in future. The need for a detailed medical history is therefore always beneficial for the proper management of these patients.

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 Top

1.
Rowland LP, Pedley PA. Merritt's neurology. In: Gold AP, Patterson MC, editors. Tuberous Sclerosis Complex. 12 th ed. Faridkot: Wolters Kluwer/Lippincott Williams and Wilkins; 2009. p. 698-704.  Back to cited text no. 1
    
2.
Barron RP, Kainulainen VT, Forrest CR, Krafchik B, Mock D, Sàndor GK. Tuberous sclerosis: Clinicopathologic features and review of the literature. J Craniomaxillofac Surg 2002;30:361-6.  Back to cited text no. 2
    
3.
Harutunian K, Figueiredo R, Gay-Escoda C. Tuberous sclerosis complex with oral manifestations: A case report and literature review. Med Oral Patol Oral Cir Bucal 2011;16:e478-81.  Back to cited text no. 3
    
4.
Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;1:659-61.  Back to cited text no. 4
    
5.
Miyamoto Y, Satomura K, Rikimaru K, Hayashi Y. Desmoplastic fibroma of the mandible associated with tuberous sclerosis. J Oral Pathol Med 1995;24:93-6.  Back to cited text no. 5
    
6.
Damm DD, Tomich CE, White DK, Drummond JF. Intraosseous fibrous lesions of the jaws: A manifestation of tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999;87:334-40.  Back to cited text no. 6
    
7.
Scully C. Orofacial manifestations in tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1977;44:706-16.  Back to cited text no. 7
    
8.
Cutando A, Gil JA, López J. Oral health management implications in patients with tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000;90:430-5.  Back to cited text no. 8
    
9.
Gupta S, Bhowate R, Degwekar SS. Clinical and radiological findings related to tuberous sclerosis complex: A case report. J Contemp Dent Pract 2008;9:85-91.  Back to cited text no. 9
    
10.
Schwartz RA, Fernández G, Kotulska K, Józwiak S. Tuberous sclerosis complex: Advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007;57:189-202.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1]


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