Epidermolysis Bullosa: ENT Involvement

Increased cutaneous vulnerability to mechanical stress is the hallmark of epidermolysis bullosa (EB), a clinically and genetically heterogeneous inherited skin fragility disorder characterized by structural anomalies that disrupt the dermo-epidermal junction or the basal layer of the epidermis. Clinical hallmarks include blisters, erosions, nonhealing ulceration, and scars after modest trauma, but these vary depending on the precise genetic abnormality and its molecular sequelae. Blistering in reaction to mechanical trauma characterizes the epidermolysis bullosa (EB) syndrome of inherited bullous illnesses. Epidermolysis bullosa subtypes have traditionally been categorized based on skin appearance. Diagnostic methods, including prenatal and preimplantation screening, have been developed thanks to research into the molecular basis of epidermolysis bullosa. Newer treatments (e.g., gene or protein therapy) may alleviate the skin fragility experienced by individuals with epidermolysis bullosa based on a greater understanding of the basement membrane zone (BMZ) and the genes responsible for its components. Genetic defects in the basement membrane generate the bullous disorder known as epidermolysis bullosa. There are four main types of epidermolysis bullosa, including type 1 (intraepidermal skin separation), type 2 (skin separation in lamina lucida or central BMZ), type 3 (sublamina densa BMZ separation, as seen in the images below), and type 4 (sporadic, blistering at any level) Kindler syndrome.