Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2011  |  Volume : 29  |  Issue : 6  |  Page : 52--55

Tuberous sclerosis: A novel approach to diagnosis

PB Jahagirdar1, R Eeraveni2, S Ponnuraj3, N Kamarthi4,  
1 Department of Oral and Maxillofacial Pathology, Seema Dental College and Hospital, Rishikesh, Uttarakhand, India
2 Department of Pedodontics and Preventive Dentistry, Karnavati School of Dentistry and Hospital, Ahmedabad, Gujarat, India
3 Department of Pedodontics and Preventive Dentistry, Madha Dental College, Kundrathur, Chennai, India
4 Department of Oral Medicine and Radiology, Seema Dental College and Hospital, Rishikesh, Uttarakhand, India

Correspondence Address:
P B Jahagirdar
Department of Oral and Maxillofacial Pathology, Seema Dental College and Hospital, Rishikesh, Uttarakhand


Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. Diagnosis of tuberous sclerosis becomes difficult in the young individuals with subtle changes. At this point, a careful inquiry and examination of the accessible signs and symptoms can errand a possible diagnosis. We hereby report such a rare case of tuberous sclerosis in 14-year-old boy, which was diagnosed in a novel approach.

How to cite this article:
Jahagirdar P B, Eeraveni R, Ponnuraj S, Kamarthi N. Tuberous sclerosis: A novel approach to diagnosis.J Indian Soc Pedod Prev Dent 2011;29:52-55

How to cite this URL:
Jahagirdar P B, Eeraveni R, Ponnuraj S, Kamarthi N. Tuberous sclerosis: A novel approach to diagnosis. J Indian Soc Pedod Prev Dent [serial online] 2011 [cited 2022 Nov 27 ];29:52-55
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Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC) is an uncommon syndrome characterized by the classic triad of seizures, mental deficiency and angiofibromas, which were formerly well thought of as adenoma sebaceum. [1] Incidence of this rare neurocutaneous disorder ranges from 1 in 10,000 to 1 in 23,000 individuals. [2] TS is inherited as an autosomal dominant pattern in one-third of the cases, while two-thirds of the cases are sporadic. Mutations in one of two tumor suppressor genes, TSC1 (at 9q34) and TSC2 (at 16p13.3) cause TS, with majority of the cases comprising the association of TSC2 gene mutation. [3] We hereby report a rare case of TS in a 14-year-old boy who was undiagnosed while he presented to us. A careful inquest of the signs and symptoms aided with investigations like abdominal ultrasound, ground sectioning of the tooth and histopathology of the skin confirmed the diagnosis.

 Case Report

A 14-year-old polio affected boy accompanied by his father came to the Department of Oral Medicine and Radiology with a chief complaint of pain in the left mandibular second molar (deep proximal caries). Medical history revealed epileptic seizures at the age of 1 year for which he was treated on and off for about 13 years. On further inquiry, the patient was found to exhibit delayed growth and low intelligence as compared with his peer age group. Extraoral examination revealed multiple papules on the nose and malar region exhibiting a butterfly fashion [Figure 1]. Intraorally, small gingival growths were evident on the facial aspects along with pitting on the labial aspects of incisors [Figure 2]a and b.{Figure 1}{Figure 2}

General physical examination of the patient demonstrated multiple hypomelanotic macules on the lumbo-sacral region, with one macule presenting as an ash leaf appearance inferior to the scapula [Figure 3]a and b. Subsequently, consent from the father was taken for biopsy of the skin lesion, and as they were reluctant for root canal treatment in the second molar, it was advised for extraction. The patient was subjected to skin biopsy and extraction of second molar under local anesthesia (LA) and nerve block, respectively. The extracted tooth specimen was sent for ground sectioning. Post-extraction instructions were given and he was recalled after a week.{Figure 3}

Histological impressions of the skin lesion revealed fibrovascular stroma composed of uniform spindle cells with indistinct cytoplasm and blunt to wavy nuclei interspersed with numerous small, thick-walled vessels [Figure 4], while the ground section of the tooth revealed irregularity in the thickness and focal pitting defects over the enamel surface [Figure 5]. So, based on the histology, a diagnosis of angiofibromas and enamel pitting was given. Routine conventional radiographs like hand wrist and lateral skull were done which were noncontributory. The patient was further referred to a cardiologist and an ophthalmologist where electrocardiogram (ECG) and fundus examination were performed and the reports were normal. Ultrasound of the abdomen was carried out which surprisingly revealed multiple hyper-echoic areas in both the kidneys suggestive of angiomyolipomas [Figure 6]. Further, the patient was subjected to renal function tests and chest X-rays which did not reveal any abnormality. As the patient's father was unwilling for exposure to computed tomography (CT) scan, it was not performed. So, by analyzing the history and probing the clinical signs and symptoms, a novel approach was carried out to diagnose a case of TS, which had manifested with subtle changes in this case. After a possible diagnosis, both the patient and the parent were well informed about the consequences of this condition and the patient was prescribed with sodium valproate for his seizures.{Figure 4}{Figure 5}{Figure 6}


The name "tuberous sclerosis" is derived from the Latin word "tuber" (meaning potato-like swelling) and the Greek word "skleros" (hard) which refers to the pathological finding of thick, firm and pale gyri, called tubers in the brains of patient's postmortem. [4] TSC is typified by neurological involvement (approximately 50% of the cases), cutaneous (approximately 70% of the cases), cardiac (approximately 30% of the cases) and renal and oral findings (approximately 11% of the cases) [Table 1]. [3],[5],[6],[7],[8],[9] The severity of these manifestations varies from patient to patient and the prognosis of the patient depends on the time of accurate diagnosis when the patient is least affected. Diagnostic criterion for TSC has been put forth by Roach et al. [Table 2], according to which one or two major and one or two minor features have to be present in the patient for diagnosing it as TSC. [10]{Table 1}{Table 2}

TSC in an infant is usually suspected when the child has cardiac rhabdomyomas (benign heart tumors) at birth or begins to have epileptic seizures, chiefly infantile spasms. These symptoms, combined with a careful examination of the skin and brain, make it possible to diagnose TSC in an infant. Nevertheless, many children are not diagnosed until later in life when they commence to show symptoms such as seizures, a reddish rash on their face (facial angiofibromas), or developmental delays with or without seizures or other signs of TSC, as it has happened in the present case.

In the present case, the patient had been having the manifestations of TSC since the age of 1 year and it was unnoticed till he presented to us. After clinical examination of the multiple papules on the nose and malar region along with gingival fibromas and enamel pitting, we started working toward the condition which has these collective manifestations. So, biopsy, tooth sectioning and various systems were evaluated sequentially in a novel approach in order to appropriately diagnose the condition and further to rule out cardiac and renal complications which can significantly hamper the prognosis of the patient.

Fortunately, we could diagnose benign angiomyolipoma, which at the time of presentation was asymptomatic, and thus the patient and his father were well educated with the condition and were instructed that any manifestations like heamaturia, hypertensive states should be treated as at most emergency. They were advised for the periodic ultrasound examination of the kidneys every 3 years, as these benign lesions can eventually become symptomatic when they enlarge in size.

TS can present with phenotypic variability and severity. Thus, to conclude, an epitomized novel approach is a prerequisite to diagnose the cases of TS which manifest with subtle changes. Thus, an early diagnosis would augment the patient's lifestyle, and furthermore, genetic counseling can avert ailments in the descendants.


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