Introduction:
Tuberous sclerosis is an autosomal dominant genetic disorder. In this condition, genetic mutation of genes responsible for protein formation is seen. This condition leads to the development of multiple non-cancerous masses in the skin and oral mucosa, including the gums. Apart from this, hard tissue malformations are also been observed. This rare condition is mainly seen among children.
What Are the Clinical Features of Tuberous Sclerosis?
Tuberous sclerosis complex is an inherited disorder. It is known primarily as a systemic disease of genetic origins and is characterized by the presence of multi-organ hamartomas (benign tissue mass) . This disease is mainly associated with the genetic mutations of the genes encoding for the proteins hamartin and tuberin. This fault in gene encoding leads to the manifestation of symptoms of tuberous sclerosis.
This disease manifests with a variety of non-specific clinical symptoms that make the immune system further complicated in the affected patients. Mainly this disease is featured by non-cancerous growths that occur primarily on the skin and in other organs like the brain, heart, kidney, or lungs.
Because this condition commonly occurs in children and in puberty as well, infantile or childhood seizures are linked to neurocognitive damage. This is one of the classic features of this disease. Researchers have observed that oral manifestations are commonly seen in children and young infants.
What Is the Prevalence of This Condition?
The first documented medical description of this disease was made in the year 1861 by Von Recklinghausen. In the year 1880, Bourneville termed this genetic disease after extensive research as tuberous sclerosis. The prevalence rate of this disease is estimated to be approximately one case per every 10,000 to 25,000 individuals worldwide.
An interesting fact to note is that the global estimate of this disease may be much higher in contrast to estimated values. This reduced prevalence rate would probably be attributed to the number of undiagnosed cases of the disease. Patients of this rare disease seldom notice or report clinical symptoms to their professional healthcare provider. Tuberous sclerosis is a disease that fundamentally belongs to a group of classical phacomatoses conditions such as neurofibromatosis types 1 and 2 diseases (a genetic disorder that causes tumors in the nerve), Sturge–Weber–Krabbe syndrome (a genetic disorder characterized by malformation of facial capillaries), and Von Hippel–Lindau disease (a multi-systemic disorder with non-cancerous tumor-like growth)
What Are the Oral Manifestations?
Almost 11 to 56 percent of tuberous sclerosis patients are known to report some or the other form of oral lesions. These can be fibromas or enamel pits. The oral manifestations of tuberous sclerosis have been extensively documented which also indicates that oral and systemic manifestations of this genetic disorder are interlinked. While among all the affected cases of tuberous sclerosis, the oral manifestations are barely reported or felt. But, in some cases, they may be quite evident or seen remarkably. Oral lesions are commonly seen in patients in the age group between four to ten years. Also, in some cases, it is even seen in puberty.
Enamel pits are the most common oral manifestation of this disease. Nearly all patients suffering from tuberous sclerosis present with enamel pits in the teeth. These pits may represent enamel hypoplasia without having any associated dentinal involvement. The diameter of the enamel pits usually varies between four to hundred micrometers. These can be easily detected by the dentist or oral surgeon clinically or through oral radiography (appearing as radiolucent pit-like enamel lesions). Enamel pits not only increase the risk of affected individuals developing dental caries or extensive cavitation, it can also lead to hypersensitivity or pain. Endodontic therapy or restorative therapy may be required in cases of cavitated lesions.
Oral fibromas, on the other hand, are considered the second common manifestation of tuberous sclerosis that is localized usually onto the maxillary gingiva surrounding the anterior teeth. More than two or three of these fibromas would also be commonly found in the perioral areas, around the lips, the tongue, or the palate. The challenging part of clinical diagnosis is that the lesions of these oral fibromas can be easily confused with drug-induced gingival enlargement (DIGO). Drug-induced enlargement of the gingiva is usually caused only in response to anticonvulsant drug therapies like Phenytoin therapy. Eliciting the correct medical history from the patient by the oral surgeon can thus be useful in establishing the correct differential diagnosis.
What Are the Diagnostic Criteria?
Multiple criteria were proposed by medical researchers for diagnosing this disease. These are now been modified to establish confirmative criteria. According to this, the presence of three or more enamel pits in affected patients is now considered a criterion for considering the oral features of tuberous sclerosis. Similarly, the presence of gingival fibromas which was previously considered a confirmatory diagnostic diagnostic criteria is now replaced by the presence of at least two or more fibromas in the oral cavity. The new diagnostic criteria currently for this disease also focus on dermatological factors such as localization or occurrence of lesions around the cephalic extremities.
How Are the Oral Manifestations of Tuberous Sclerosis Managed?
The management of oral manifestations of Tuberous Sclerosis includes:
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Surgical Procedures: Procedures such as enucleation (complete removal of the lesion) and curettage are performed in the case of intraosseous or deep bony lesions in the jaw. In addition to these procedures, accessory conditions such as cleft lip (a gap between two portions of the lips), cleft palate (a gap between two portions of the palate), macroglossia (enlarged tongue), high-arched palate, or bifid uvula should also be treated.
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Dental Enamel Pits: Restorative modalities or endodontic therapy should both be considered as options.
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Gingival Fibromas: In the case of moderate to large-sized fibromas, they can be eliminated through carbon dioxide laser vaporization or electrocauterization (tissue removal using electrical current). It is advisable to schedule a dental follow-up six months after the restoration and surgical resection of the fibromas.
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Orthodontic Treatment: Some individuals with tuberous sclerosis may have malalignment of teeth; therefore, orthodontic care should be provided to improve jaw function and enhance aesthetics.
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Others: Treating cutaneous lesions in patients with tuberous sclerosis typically involves laser therapy as recommended by the dermatologist. For children with special needs, additional occupational therapies such as speech therapy or physical therapy can be employed. In addition to these treatments, regular dental checkups are essential, good oral hygiene practices are crucial, effective seizure management is important, and genetic counseling is often recommended for individuals with tuberous sclerosis and their families to discuss genetic inheritance.
Conclusion
It is important to note that as per the modern diagnostic criteria, the presence of enamel pits on the teeth and multiple oral fibromas with multiple cutaneous growths present on the skin or in different organs are confirmatory of this severe genetic disease. This may cause both functional and esthetic concerns for the affected children. A multidisciplinary mode of management by the general physician and dentist along with surgical procedures can be implemented for curing oral lesions. In addition to this, regular oral monitoring can assist in addressing the functional and esthetic restoration needs of the individual patient.
