Inherited epidermolysis bullosa

Abstract

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

Balloon Dilatation of Esophageal Strictures in Children With Bullous Epidermolysis: Description of Case Series

“…населения [8][9][10]. По данным Национального регистра БЭ [11], распространенность заболевания (на 100 тыс. родившихся живыми) в Норвегии составляет 5,4 случая, в Японии -0,78, в Италии -1,54, в Австралии -1,03, в Хорватии -0,96.…”

Common skin and bleeding disorders that can potentially masquerade as child abuse

“…Though various forms of EB can have either autosomal recessive or autosomal dominant inheritance patterns, EB collectively has an incidence of 19 out of 1 million live births in the United States and presumably worldwide. Depending on the subtype of EB, clinical onset may be as early as birth and appear as late as early adulthood [Fine, 2010]. Ranging from mild to severe, all forms of EB are marked by skin fragility and formation of bullous lesions secondary to minimal or absent mechanical friction.…”

“…Thorough patient medical history and family history is of particular importance when evaluating a child presenting with unexplained blistering lesions. In addition to comprehensive history and clinical evaluation, immunohistochemistry and skin biopsy are also modes of diagnosis, which separate these devastating lesions from acquired abusive burns [Fine, 2010].…”

Oral Health Care for Patients with Epidermolysis Bullosa ‐ Best Clinical Practice Guidelines

“…Squamous cell carcinoma (SCC) has been described as the leading cause of death in patients with EB 80 . Few cases affecting the oral cavity have been reported.…”