OBJECTIVES : DEB is a rare inherited skin disorder characterized by painful skin blistering and wounds. As there are no systemic treatments approved in DEB, frequent and costly interventions are required to care for wounds and treat wide-ranging complications. A systematic literature review (SLR) was undertaken to understand the economic and humanistic burden of DEB.

METHODS : The SLR was performed using pre-defined search terms in accordance with PRISMA guidelines. EMBASE, MEDLINE, and Cochrane databases were systematically searched from 2010 to search date (07/30/2020) to identify studies reporting outcomes including patient-reported outcomes, health-related quality of life (HRQoL), burden of illness, health-state utility values, healthcare resource utilization (HCRU), and costs. Relevant congresses (2017-2020) and bibliographic searches were also conducted to capture all relevant data.

RESULTS : Fifty-four records from 52 original studies were identified. Forty-three reported HRQoL outcomes (13 interventional, 20 prospective observational, 6 retrospective observational, and 4 surveys), and eleven reported on cost or HCRU (6 prospective observational, 2 retrospective observational, and 3 surveys). Results indicate considerable impairment of HRQoL in patients with DEB, particularly due to a high degree of pain and pruritis from recurrent and non-healing wounds. Larger wound size significantly correlated with worsening severity of skin manifestations and diminished patient and caregiver HRQoL. The economic burden of DEB was driven by wound care, inpatient care, and home nursing costs, with patients incurring 30-fold higher annual costs in severe recessive DEB relative to other subtypes. In the US, annual total medical costs for patients and caregivers with EB vary from $200,000 to $400,000, and mean out-of-pocket costs are as high as $682 (2017) despite over 95% having access to health coverage.

CONCLUSIONS : Given the overwhelming humanistic, and economic burden of DEB among patients and caregivers, there is a need for topical therapies that address the underlying molecular cause of disease, while minimizing pain upon administration.