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Original Investigation
December 26, 2018

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

Author Affiliations
  • 1Department of Pediatrics, University of Colorado School of Medicine, Aurora
  • 2Adult and Child Consortium for Health Outcomes Research and Delivery Science, University of Colorado, Aurora
  • 3Children’s Hospital Colorado, Aurora
  • 4Department of Dermatology, University of Colorado School of Medicine, Aurora
  • 5Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
  • 6Department of Dermatology, Stanford University School of Medicine, Stanford, California
  • 7Section of Dermatology, Division of Paediatric Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
  • 8Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester
  • 9Department of Dermatology, University of Minnesota Medical School, Minneapolis
  • 10Department of Dermatology, Columbia Irving Medical Center, New York, New York
  • 11Department of Pediatrics, Columbia Irving Medical Center, New York, New York
  • 12Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 13Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 14Department of Dermatology, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois
  • 15CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada
  • 16Department of Dermatology, University of California San Diego, San Diego
  • 17Department of Pediatrics, University of California San Diego, San Diego
  • 18Department of Pediatric and Adolescent Dermatology, Rady Children’s Hospital, San Diego, California
  • 19Department of Dermatology, Phoenix Children’s Hospital, Phoenix, Arizona
  • 20Departments of Internal Medicine, Dell Medical School, University of Texas, Austin
  • 21Departments of Pediatrics, Dell Medical School, University of Texas, Austin
  • 22Department of Pediatric Dermatology, Dell Children's Medical Center, Austin, Texas
  • 23Department of Dermatology, University of Miami Miller School of Medicine, Miami, Florida
  • 24Department of Pediatric Dermatology, Children’s Hospital San Antonio, San Antonio, Texas
  • 25Division of Dermatology, Department of Medicine, Washington University in St Louis, St Louis, Missouri
  • 26Department of Dermatology, Henry Ford Hospital, Detroit, Michigan
  • 27Department of Dermatology, State University of New York Downstate Medical Center, Brooklyn
  • 28Associate Editor, JAMA Dermatology
JAMA Dermatol. Published online December 26, 2018. doi:10.1001/jamadermatol.2018.4673
Key Points

Question  What are the clinical trajectories of patients with epidermolysis bullosa, specifically regarding the timing of diagnosis and subsequent major clinical events?

Findings  In this cohort study of 644 patients with epidermolysis bullosa, patients with recessive dystrophic epidermolysis bullosa were the most likely to receive a clinical diagnosis at birth if they had signs of disease at birth, and patients with junctional epidermolysis bullosa had the highest rate of confirmatory testing.

Meaning  The findings suggest that diagnostic testing for epidermolysis bullosa is more common for patients with severe phenotypes; understanding the course of major clinical events may enable improved counseling on prognosis and management of epidermolysis bullosa.

Abstract

Importance  Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major clinical events, is needed to refine best practices and improve quality of life and clinical outcomes for patients with EB.

Objectives  To describe demographics, clinical characteristics, milestone diagnostic and clinical events (such as initial esophageal dilation), and outcomes in patients with EB using the Epidermolysis Bullosa Clinical Characterization and Outcomes Database and to determine what characteristics may be associated with overall EB severity and/or disease progression.

Design, Setting, and Participants  This cohort study included data on patients with EB who were enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2011, to June 30, 2017; 17 participating EB centers in the United States and Canada contributed data to this study.

Exposures  Type of EB, including recessive dystrophic epidermolysis bullosa (RDEB), junctional epidermolysis bullosa (JEB), dominant dystrophic epidermolysis bullosa (DDEB), and epidermolysis bullosa simplex (EBS).

Main Outcomes and Measures  Demographic information, clinical characteristics (including age at onset of signs of EB and subsequent clinical diagnosis), types of diagnostic testing performed, and milestone clinical events for patients with RDEB.

Results  Of 644 enrolled patients from 17 sites included in this study, 323 were male (50.2%), with a mean (SD) age of 14.4 (11.7) years; 283 (43.9%) had RDEB, 194 (30.1%) had EBS, 104 (16.2%) had DDEB, and 63 (9.8%) had JEB. Signs of disease were present at birth in 202 patients with RDEB (71.4%), 39 with JEB (61.9%), 60 with DDEB (57.7%), and 74 with EBS (38.1%). For those with signs of disease at birth, a clinical diagnosis was made at the time of birth in 135 patients with RDEB (67.0%), 31 with DDEB (52.6%), 35 with EBS, (47.3%) and 18 with JEB (46.2%). Patients with JEB had the highest rate of any confirmatory testing (51 of 63 [81.0%]), followed by RDEB (218 of 283 [77.0%]), DDEB (71 of 104 [68.3%]), and EBS (100 of 194 [51.5%]). For all types of EB, both electron microscopy and immunofluorescence microscopy were performed at younger ages than genetic analysis. Among 283 patients with RDEB, 157 (55.5%) had esophageal dilation, 104 (36.7%) had gastrostomy tube placement, 62 (21.9%) had hand surgery, 18 (6.4%) developed squamous cell carcinoma, and 19 (6.7%) died.

Conclusions and Relevance  The findings suggest that diagnostic testing for EB is more common for patients with severe phenotypes. Earlier diagnostic testing may enable improved characterizations of patients so that appropriate counseling and clinical care may be offered, especially pertaining to milestone events for those with RDEB.

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