Epidermolysis Bullosa: Literature Review

Abstract

Introduction: Epidermolysis Bullosa (EB) is a rare, non-contagious hereditary or acquired genetic disease, which affects the skin and mucous membranes, generating a defect in the adhesion mechanisms between epithelial cells or the underlying connective tissue. Objective: Understand the genetic and immunological alterations that lead to the development of the disease. Methodology: Literature review through bibliographical research based on the survey of scientific articles published in the last 12 years (2010-2022) in the Lilacs, Pubmed and Scielo databases. Results and discussion: It was found that the disease is caused by a mutation that affects the production of proteins by the skin in the junction between the epidermis and the dermis, which weakens the tissue and causes the formation of blisters. Recent research has led to the identification of 18 different genes in human DNA that characterize the clinical picture of EB. It is currently classified into four main types: Simple (EBS), Junctional (EBJ), Dystrophic (EBD) and Kindler Syndrome (KS), in addition to having different subtypes. Furthermore, EB can be acquired, being associated with the interaction of skin structures and autoantibodies. Conclusion: It is noticed that the treatment and follow-up of the patient with EB varies according to the type. Because it is a genetic and immunological disease, there is no cure. However, early diagnosis is possible to assist in family planning and genetic counseling of affected families.