Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

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.

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa

“…These findings have several implications for clinical care, as chronic wounds are a major mediator of disease course in RDEB. The disrupted microenvironment and pathologic remodeling of chronic wounds leads to persistent inflammation and increased risk of bacterial colonization and infection, facilitating the development of sepsis, as well as severe, treatment-refractory anemia, and malnutrition due to increased metabolic demand from impaired wound healing [ 16 , 19 ]. This, in turn, can worsen disease trajectory by further impairing wound healing capabilities and physiologic reserve.…”

“…Chronic wounds are also associated with worse quality of life [ 21 ]. Lastly, chronic wounds impose significant financial and time burdens on RDEB patients due to the need for extensive routine wound dressing changes [ 19 , 22 ]. Thus, treatment of chronic RDEB wounds may produce many important clinical benefits, including improvements in both disease course and outcomes, and quality of life.…”

Iron status and burden of anemia in children with recessive dystrophic epidermolysis bullosa

“…Therapy for RDEB is limited to supportive care. Mainstays of treatment include wound care, management of infection, and maintenance of nutrition 1,4 . Optimization of nutritional status can maximize growth and wound healing 5 .…”

“…Mainstays of treatment include wound care, management of infection, and maintenance of nutrition. 1,4 Optimization of nutritional status can maximize growth and wound healing. 5 RDEB predisposes to a multifactorial anemia, including anemia of inflammation (AI) and iron deficiency anemia (IDA).…”