Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey - 20/05/20

Doi : 10.1016/j.jaad.2020.03.028

Victor A. Eng, BS ^a, Daniel C. Solis, MD ^b, Emily S. Gorell, DO, MS ^a, Sara Choi, BA ^a, Jaron Nazaroff, BS ^c, Shufeng Li, MS ^a, Mark P. de Souza, PhD ^d, Dedee F. Murrell, MD ^e, M. Peter Marinkovich, MD ^a,^f, Jean Y. Tang, MD, PhD ^a,^⁎
^a Department of Dermatology, Stanford University School of Medicine, California
^b Department of Internal Medicine, University of California Riverside
^c University of California Irvine School of Medicine
^d deSouzaTech, LLC, Berkeley, California
^e University of New South Wales, Sydney, Australia
^f Department of Dermatology, Palo Alto Veterans Affairs Medical Center, California

^∗Correspondence to: Jean Y. Tang, MD, PhD, Department of Dermatology, Stanford University School of Medicine, 450 Broadway St, Redwood City, CA 94063.Department of DermatologyStanford University School of Medicine450 Broadway StRedwood CityCA94063

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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 patients with RDEB.

Methods

A cross-sectional study of patients with RDEB surveyed through the global EBCare Registry. Patient-reported outcomes included skin disease severity, wound characteristics, pain, itch, extracutaneous symptoms, and medications. QOL was measured by using the validated Quality of Life in Epidermolysis Bullosa instrument.

Results

A total of 85 patients with RDEB reported 1226 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 epidermolysis bullosa patient registry.

Conclusions

This study shows a significant correlation between larger wound size with worsening skin disease severity and quality of life in participants with RDEB. Worsening skin disease severity significantly correlated with key clinical manifestations. These results show that patients with RDEB are able to self-report their skin disease severity and wounds.

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Key words : collagen biology and diseases of collagen, epidermolysis bullosa, genetics/genodermatoses, pediatrics, quality of life, recessive dystrophic epidermolysis bullosa, survey, wound healing

Abbreviations used : EB, EBDASI, QOL, QOLEB, RDEB, SCC

Plan

Study design

Participant recruitment

	Funding sources: None.
	Disclosure: Dr de Souza received a salary from Lotus Tissue Repair and holds stock in Phoenix Tissue Repair. Dr Murrell is the creator of the Quality of Life in Epidermolysis Bullosa questionnaire used in this study. Dr Marinkovich receives grant funding from the Office of Research, Palo Alto Veterans Affairs Medical Center. Mr Eng, Drs Solis and Gorell, Ms Choi, Mr Nazaroff, Ms Li, and Dr Tang have no conflicts of interest to declare.
	IRB approval status: Exempt from Stanford IRB review.
	Reprints not available from the authors.