Victor A Eng1, Daniel C Solis2, Emily S Gorell1, Sara Choi1, Jaron Nazaroff3, Shufeng Li1, Mark P de Souza4, Dedee F Murrell5, M Peter Marinkovich6, Jean Y Tang7. 1. Department of Dermatology, Stanford University School of Medicine, California. 2. Department of Internal Medicine, University of California Riverside. 3. University of California Irvine School of Medicine. 4. deSouzaTech, LLC, Berkeley, California. 5. University of New South Wales, Sydney, Australia. 6. Department of Dermatology, Stanford University School of Medicine, California; Department of Dermatology, Palo Alto Veterans Affairs Medical Center, California. 7. Department of Dermatology, Stanford University School of Medicine, California. Electronic address: tangy@stanford.edu.
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.
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.
Authors: Jodi Y So; Shivali Fulchand; Christine Y Wong; Shufeng Li; Jaron Nazaroff; Emily S Gorell; Mark P de Souza; Dedee F Murrell; Joyce M Teng; Albert S Chiou; Jean Y Tang Journal: Orphanet J Rare Dis Date: 2022-07-15 Impact factor: 4.303
Authors: Irina Gurevich; Pooja Agarwal; PeiPei Zhang; John A Dolorito; Stacie Oliver; Henry Liu; Nicholas Reitze; Nikhil Sarma; Isin Sinem Bagci; Kunju Sridhar; Visesha Kakarla; Vamsi K Yenamandra; Mark O'Malley; Marco Prisco; Sara F Tufa; Douglas R Keene; Andrew P South; Suma M Krishnan; M Peter Marinkovich Journal: Nat Med Date: 2022-03-28 Impact factor: 87.241
Authors: Jodi Y So; Jaron Nazaroff; Chinonso V Iwummadu; Nicki Harris; Emily S Gorell; Shivali Fulchand; Irene Bailey; Daniel McCarthy; Zurab Siprashvili; M Peter Marinkovich; Jean Y Tang; Albert S Chiou Journal: Orphanet J Rare Dis Date: 2022-10-17 Impact factor: 4.303