Patient Reported Outcomes and Quality of Life in Recessive Dystrophic Epidermolysis Bullosa: A Global Cross-sectional Survey.

Abstract Background A spectrum of skin disease severity exists in patients with recessive dystrophic epidermolysis bullosa (RDEB). Objective To characterize the patient reported outcomes and quality of life (QOL) in RDEB patients. Methods A cross-sectional study of RDEB patients surveyed through the global EBCare Registry. Patient reported outcomes included skin disease severity, wound characteristics, pain, itch, extra-cutaneous symptoms, and medications. QOL was measured using the validated Quality of Life in Epidermolysis Bullosa (QOLEB) instrument. Results 85 RDEB patients reported on 1,226 wounds (937 recurrent wounds and 289 chronic open wounds). Overall skin disease severity was self-reported as mild (26%, 22/83), moderate (48%, 40/83), or severe (25%, 21/83). Worsening skin disease severity was significantly associated with larger wounds, increased opiate use, anemia, gastrostomy tube use, infections, osteoporosis, and squamous cell carcinoma. Larger wound size was associated with worse quality of life scores. Limitations All data were self-reported from an online EB patient registry. Conclusions This study shows a significant correlation between larger wound size with worsening skin disease severity and quality of life in RDEB participants. Worsening skin disease severity significantly correlated with key clinical manifestations. These results demonstrate that RDEB patients are able to self-report their skin disease severity and wounds.