Approach of a Pediatric Patient with Epidermolysis Bullosa: A Clinical Case

Epidermolysis Bullosa (EB) is a rare genetic disease characterized by a recurrent formation of blisters due to structural weakness of the skin and mucous membranes. It is caused by mutations in genes, which alter the cohesion between epithelial cells or between these cells and connective tissue. The disease can be classified into four types: EB simplex; junctional EB; dystrophic EB (DEB) and Kindler syndrome. There is no predominance of sex or race.
The most common clinical manifestations of this pathology are blisters that, when they rupture, leave painful ulcers. Changes in the shape and structure of teeth, ankyloglossia, susceptibility to tooth decay, limited mouth opening, among others, may also occur. In recessive dystrophic epidermolysis bullosa (RDEB), oral lesions appear with minimal trauma, requiring specific care in dental treatment. A 5-year-old caucasian male patient attended a dental appointment in 2016, having been diagnosed with RDEB since he was 23 months old. Clinically, the patient had bullous and hemorrhagic lesions on the oral mucosa, ulcers and skin scars. He had a high plaque index, tartar deposition, gingival inflammation, tooth decay, dental number changes such as gemination in a deciduous dentition tooth and left unilateral crossbite. The reason for the consultation was the presence of tooth decay and difficulty in oral hygiene. Initially, specific oral hygiene and dietary instructions were addressed. Scaling were performed, as well as the wear of the edges of the cusps that traumatized the mucous membranes and topical applications of fluoride. The treatment of caries and extraction of certain deciduous teeth that had not exfoliated began. Appointments were scheduled quarterly, although given the patient's little cooperation, they were limited to urgent treatments. DEB can be inherited in an autosomal dominant or recessive manner. In the present case, the mutation has maternal origin and atypical, given the benignity of the phenotype. The clinical and radiographic findings showed that we were facing a patient with a high risk of tooth decay. Brushing has always been very difficult, the patient is unable to use dental floss and doesn't tolerate manipulation of the oral cavity. As such, preventive measures were adopted. Treatments were sometimes postponed due to painful symptoms prior to the appointments. Currently, scaling is performed with Guided Biofilm Therapy®, which was well tolerated by the patient and didn’t form new bullous lesions. For a correct follow-up in the field of dentistry, both the dentist and caregivers must be aware of preventive measures and appropriate recommendations for these patients. Considering the fragility of the oral mucosa in patients with EB, preventive dentistry plays a fundamental role in reducing the need for dental treatments, and it is essential that the dentist knows the care to be taken.