Larger wounds signify worsening disease in recessive dystrophic epidermolysis bullosa
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Individuals with recessive dystrophic epidermolysis bullosa who have larger wound sizes are more likely to have worsening skin disease severity and quality of life, according to a study.
“Epidermolysis bullosa (EB) is a spectrum of rare genodermatoses characterized by skin fragility and blistering. Recessive dystrophic EB (RDEB) is one of the most severe forms and most detrimental to quality of life (QOL),” Victor A. Eng, BS, of the department of dermatology at Stanford University School of Medicine in California, and colleagues wrote. “RDEB is caused by mutations in the gene COL7A1, which encodes type VII collagen, resulting in skin fragility, painful blistering and aggressive squamous cell carcinoma.”
Researchers conducted a cross-sectional study of RDEB patients surveyed through the global EBCare Registry, an online database created by the Epidermolysis Bullosa Research Association.
Patients or their caregivers completed a questionnaire that included inquiries regarding quality of life, skin disease severity, wound characteristics, pain, itch, extracutaneous symptoms and medications.
The survey included 85 patients with 1,226 wounds, of which 46 had diagnostic confirmation of RDEB and 61 had skin biopsy confirmation.
Skin disease severity was reported to be mild in 26% of patients, moderate in 48% and severe in 25%. Those with larger wounds were more likely to have worsening skin disease, as were those with increased opiate use, anemia, gastronomy tube use, infections, osteoporosis and squamous cell carcinoma.
Quality of life scores, as measured by Quality of Life in Epidermolysis Bullosa (QOLEB) score, were also worse for those with larger wound sizes.
“These results show that larger wound size correlated with worsening disease severity and QOLEB in patients with RDEB,” the authors wrote. “This information establishes the baseline patient-reported outcomes to help determine the clinical efficacy of emerging RDEB therapies.”
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