A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.
diagnostic concordance
diagnostic testing
electron microscopy
epidermolysis bullosa
genetic analysis
genetics
immunofluorescence mapping
laboratory testing
next-generation sequencing
Journal
Journal of the American Academy of Dermatology
ISSN: 1097-6787
Titre abrégé: J Am Acad Dermatol
Pays: United States
ID NLM: 7907132
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
03
09
2020
revised:
03
06
2021
accepted:
09
09
2021
pubmed:
12
10
2021
medline:
20
4
2022
entrez:
11
10
2021
Statut:
ppublish
Résumé
Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB. A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal. A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%). Retrospective design. Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.
Sections du résumé
BACKGROUND
Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling.
OBJECTIVE
To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB.
METHODS
A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal.
RESULTS
A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%).
LIMITATIONS
Retrospective design.
CONCLUSIONS
Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.
Identifiants
pubmed: 34634382
pii: S0190-9622(21)02584-6
doi: 10.1016/j.jaad.2021.09.065
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1063-1071Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR002535
Pays : United States
Informations de copyright
Copyright © 2021 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of interest Dr Bruckner serves as an investigator for Fibrocell, Phoenix Tissue Repair, PROQR/Wings, and Castle Creek and on an ad hoc advisory board for Castle Creek. Dr Pope receives research funding from the EB Research Foundation. Dr Paller serves as an investigator for Castle Creek and Lenus Pharmaceuticals and has been a consultant with honorarium for Abeona. Dr Levy serves on the advisory board for Cassiopea, Regeneron; as an investigator for Fibrocell/Castle Creek, Galderma, Janssen, Pfizer; on the Data Safety and Monitoring Board for Novan; and as a section editor for UpToDate. Dr Lucky serves as an investigator for Lenus Pharmaceuticals and Castle Creek and on the scientific advisory board for EBRP (EB Research Partnership) and Abeona. Dr Glick serves as an investigator for Lenus Pharmaceuticals. Authors Phillips, Augsburger, and Peoples and Drs Huang, Kaplan, Khuu, Tang, Lara-Corrales, Wiss, Levin, Morel, Hook, Eichenfield, McCuaig, Powell, Castelo-Soccio, Price, Schachner, Browning, Jahnke, Shwayder, and Bayliss have no conflicts of interest to declare.