| Summary: | Ellie Rashidghamat,1 Jemima E Mellerio,1,2 1St John’s Institute of Dermatology, King’s College London, 2St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Abstract: Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of severe inherited blistering diseases that affects 500,000 individuals worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma and show involvement of mucus membrane and other organs in some subtypes. Dystrophic EB (DEB) is divided into 2 major types depending on the inheritance pattern: recessive DEB (RDEB) and dominant DEB (DDEB). RDEB tends to be at the more severe end of the clinical spectrum and has a prevalence of 8 per 1 million of the population, accounting for approximately 5% of all cases of EB. RDEB is caused by loss-of-function mutations in the type VII collagen gene, COL7A1, which leads to reduced or absent type VII collagen (C7) and structurally defective anchoring fibrils at the dermal-epidermal junction. In this review, we will discuss the management of chronic wounds in individuals with DEB, highlighting the changes to practice and the novel therapies that may offer a solution to this debilitating and complex problem which is one of the greatest sources of morbidity in this disease. Keywords: epidermolysis bullosa, recessive dystrophic, dominant dystrophic, wound healing
|
|---|
