Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review

Abstract

Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. There are four major classical heritable EB types, due to mutations in as many as 20 distinct genes: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB). This study is aimed at reporting case series on patients ( $N=8$ ; males, $n=5$ and females, $n=3$ , age range 12-68 years) affected by EB and performs a review of the literature on this topic. This group of disorders can affect oral soft and hard tissues in various ways, resulting in various effects including enamel hypoplasia, dental caries, microstomia, ankyloglossia, oral blistering, and ulcerations early-onset periodontal disease. From the sample results, it can be concluded that the clinical manifestation of EB patients is highly variable and very different in prognosis. Oral health deeply influences the quality of life of EB patients. Dental management is essential to prevent the aggravation of soft tissue damage and tooth loss and to improve the quality of life through prosthetic and restorative therapies. Dentists should consider the oral alterations of EB subtypes to perform a personalized approach to the patients’ needs in a preventive and therapeutic point of view.