Home About us Editorial board Ahead of print Current issue Archives Submit article Instructions Subscribe Search Contacts Login 
  • Users Online: 360
  • Home
  • Print this page
  • Email this page


 
 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 30  |  Issue : 2  |  Page : 189-192

Oral lesions in tuberous sclerosis


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 Submission18-Jan-2018
Date of Acceptance17-Feb-2018
Date of Web Publication16-Jul-2018

Correspondence Address:
Dr. Lakshmi S Reddy
B 2006, ATS Haciendas, Indirapuram, Ghaziabad - 201 014, Uttar Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_24_18

Rights and Permissions
   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

How to cite this URL:
Reddy LS, Singh T, Reddy VK, Mittal S. Oral lesions in tuberous sclerosis. J Indian Acad Oral Med Radiol [serial online] 2018 [cited 2019 Sep 17];30:189-92. Available from: http://www.jiaomr.in/text.asp?2018/30/2/189/236725




   Introduction Top


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 Top


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.
Figure 1: Nodular growths on right nape of neck

Click here to view


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

Click here to view


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 3: Nodular growths on right buccal mucosa

Click here to view
Figure 4: Nodular growths on left buccal mucosa

Click here to view
Figure 5: Nodular growths on lower labial mucosa

Click here to view
Figure 6: Nodular growth on gingiva of maxillary anterior teeth on palatal side

Click here to view
Figure 7: Multiple enamel pits on labial aspect of maxillary anterior teeth

Click here to view
Figure 8: Multiple enamel pits on labial aspect of mandibular anterior teeth

Click here to view


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 Top


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 Top


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 Top

1.
Curatolo P, Maria BL. Tuberous sclerosis. In: Dulac O, Lassonade M, Sarnat HB, editors. Pediatric Neurology. Part I: Handbooks of Clinical Neurology, vol. 111. Elsevier Publishers; 2013. p. 323-31.  Back to cited text no. 1
    
2.
Ongole R, Praveen BN. Dermatological Disorders. Textbook of Oral Medicine, Oral Diagnosis and Oral Radiology, vol. 2. Chennai: Elsevier Publishers; 2013. p. 232-3.  Back to cited text no. 2
    
3.
Huang J, Manning BD. The TSC1-TSC2 complex: A molecular switchboard controlling cell growth. Biochem J 2008;412:179-190.  Back to cited text no. 3
    
4.
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657-68.  Back to cited text no. 4
    
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.  Back to cited text no. 5
    
6.
Cardis MA, De-Klotz CMC. Cutaneous manifestations of tuberous sclerosis complex and the paediatrician' s role. Arch Dis Child 2017;102:858-63.  Back to cited text no. 6
    
7.
De Jesus Araújo L, Yamamoto De Almeida L, Santos Lima J, Martelli Júnior H, Ferreti Bonan PR. Evaluation of MMP-1, MMP-10, TIMP-1, a-SMA and TGF-b1 in angiofibromas of tuberous sclerosis. Minerva Stomatol 2011;60:25-33.  Back to cited text no. 7
    
8.
Narayanan V. Tuberous sclerosis complex: Genetics to pathogenesis. Pediatr Neurol 2003;29:404-09.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

   Abstract Introduction Case Report Discussion Conclusion Article Figures
  In this article
 References

 Article Access Statistics
    Viewed325    
    Printed4    
    Emailed0    
    PDF Downloaded113    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]