Year : 2010 | Volume
: 21 | Issue : 1 | Page : 138--140
Oral manifestations leading to the diagnosis of familial tuberous sclerosis
Hercilio Martelli1, Leonardo Santos Lima2, Paulo Rogerio Ferreti Bonan1, Ricardo D Coletta3,
1 Departments of Oral Diagnosis, Dental School, Montes Claros, Minas Gerais, Brazil
2 Medicine School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil
3 Department of Oral Diagnosis, State University of Campinas, Piracicaba, Sao Paulo, Brazil
Paulo Rogerio Ferreti Bonan
Departments of Oral Diagnosis, Dental School, Montes Claros, Minas Gerais
Clinical manifestations of tuberous sclerosis (TS) are variable, and oral involvement occurs in less than 10% of the affected patients. We reported herein a nine-year-old boy with dental enamel pits and gingival nodular lesions, histologically diagnosed as angiofibromas that leaded to the diagnosis of a family with TS. In this report, we demonstrated the multiprofessional importance in the diagnosis of TS. Early diagnosis of TS is essential for an appropriate treatment of the affected patients and genetic counseling.
|How to cite this article:|
Martelli H, Lima LS, Bonan PR, Coletta RD. Oral manifestations leading to the diagnosis of familial tuberous sclerosis.Indian J Dent Res 2010;21:138-140
|How to cite this URL:|
Martelli H, Lima LS, Bonan PR, Coletta RD. Oral manifestations leading to the diagnosis of familial tuberous sclerosis. Indian J Dent Res [serial online] 2010 [cited 2021 Feb 26 ];21:138-140
Available from: https://www.ijdr.in/text.asp?2010/21/1/138/62793
Tuberous sclerosis (TS) is an autosomal dominant syndrome with variable expressivity; however, familial history is observed in only 30% of the cases.  The major presenting features of TS include facial angiofibromas, hypomelanotic maculas, Shagreen patches, cerebral cortical tubers, subependymal nodules, giant cell astrocytomas, cardiac rhabdomyomas, and renal angiomyolipomas.  Oral manifestations of TS are characterized by fibromas, angiofibromas, bifid uvulas, cleft lip and palate, macroglossia, high arched palate, and enamel defects. ,, We report a patient with dental enamel pits and gingival angiofibromas that permitted the diagnosis of familial TS.
A nine-year-old boy was referred to our Stomatology Clinic due to painless gingival enlargement, emerged after permanent dental eruption, in the anterior region. His medical history revealed epileptic episodes since he was of two years with eventual recurrences, treated by very sporadic use of antiseizures drugs, and asthma. Intraoral examination showed nodular lesions in the gingiva of the left upper and lower lateral incisors, and dental enamel pits in the lower canines [Figure 1]. Both gingival lesions were the normal color, excluding an inflammatory origin, and caused tooth displacement, but only the upper lesion had an irregular surface. The provisional diagnosis of gingival overgrowth induced by drugs was considered, but the very sporadic antiseizures medicines use, just only after seizures episodes conducted to think in a syndromic lesion. The association of dental enamel pits and gingival nodular lesions, suggestive of fibromas or angiofibromas, led to the clinical hypothesis of TS and a search for skin lesions was performed. During skin examination, it was observed few nodular lesions in nasal and perinasal area, discrete hypomelanotic macules in the back, and ungueal lesion in the third finger of the left hand [Figure 2].
The clinical examination of the family members revealed that of 18 descendants, seven presented typical features of TS, including his mother who showed ungueal lesions, hypopigment macules, and dental enamel pits. These findings confirmed the diagnosis of familial TS.
The patient was submitted to imaging analysis, including cranial radiographs and cone beam computed tomography, ultrasonography of the abdomen, and ophthalmic examination, revealing complete normality of the structures. The patient is actually submitted to imaginological investigations by RMI to intracranial lesions and abdominal tumors and periodical examination of images will be performed to follow-up.
With the hypothesis of angiofibromas, the gingival lesions were removed. Histopathologic examination showed, with the hematoxylin and eosin stain, a keratotic surface in the acanthotic stratified squamous epithelium overlying the edematous fibrous connective tissue, containing numerous dilated capillaries surrounded by a fibroblastic proliferation and scattered, large and stellate-shaped cells, consistent with a diagnosis of angiofibroma [Figure 3]. There was no recurrence of the gingival lesions for next eight months.
TS is usually diagnosed in the first year of life, due to the presence of epileptic patterns or to deterioration in the locomotor system, that leads to the search for ash leaf macules on the skin.  However, sometimes by the absence of common features makes the diagnosis difficult and later. In this case, although the patient had a history of epilepsy and showed ungueal lesion and hypomelanotic ash-leaf cutaneous macules, the identification of the dental enamel pits and gingival angiofibromas was fundamental to the diagnosis of TS.
The angiofibromas most frequently affect the anterior portions of the gingiva, but they are not rare on the lips, tongue, and palate. They may be normal-colored or red and typically appear in late childhood.  Although a prevalence of 11% has been reported, the true frequency of these findings may be significantly greater; one study of 39 patients revealed oral fibromas/angiofibromas in 56% of the TS patients.  The recurrence of these lesions in the gingival tissue after gingivectomy and periodontal care is rare, probably due to effectiveness of the treatment. [4,8]
The differential diagnosis of these lesions includes the gingival overgrowth induced by drugs, specifically phenytoin, inflammatory or tumoral processes.  Gingival overgrowth may be induced in TS especially due to phenytoin.  In this case we did not confirm this possibility due to very sporadic use of the anti-seizure drugs and presence of tumoral benign growths associated with enlarged gingiva leading to think primary in a syndromic process. Uniform general growth and the common pattern of gingival enlargement induced by drugs, was lack in this case.  Also, absence of inflammatory features in this lesion like abundant biofilm, redness, edema and calculus revealed a non inflammatory cause. 
Dental enamel pitting is observed in up to 100% of the patients with TS. Dental pits can also be observed in the general population, but at lower frequency and with fewer lesions than in TS.  In one study, 70% of patients with TS had more than 14 pits, compared with 5% of family members and 4% of control subjects.  Enamel defects are also observed, like a minor feature, in pitted hypoplastic amelogenesis imperfecta, vitamin D-dependent rickets, pseudohypoparathyreoidism, and junctional epidermolysis bullosa. 
In fact, the other family members, including his mother and grandfather, were only diagnosed after his diagnosis. In summary, we demonstrated the multiprofessional importance in the diagnosis of TS. Early diagnosis of TS is essential for an appropriate treatment of the affected patients and genetic counseling.
To Fundaηγo de Amparo a Pesquisa do Estado de Minas Gerais, FAPEMIG, due to researchers support (BIPDT and PPM).
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