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A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa. Journal of the American Academy of Dermatology Phillips, G. S., Huang, A., Augsburger, B. D., Kaplan, L., Peoples, K., Bruckner, A. L., Khuu, P., Tang, J. Y., Lara-Corrales, I., Pope, E., Wiss, K., Levin, L. E., Morel, K. D., Hook, K. P., Paller, A. S., Eichenfield, L. F., McCuaig, C. C., Powell, J., Castelo-Soccio, L., Levy, M. L., Price, H. N., Schachner, L. A., Browning, J. C., Jahnke, M., Shwayder, T., Bayliss, S., Lucky, A. W., Glick, S. A. 2021

Abstract

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 of patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004 to July 8, 2019 was included. Tests concluding the same EB type (EB simplex [EBS], junctional EB [JEB], dominant dystrophic EB [DDEB], recessive dystrophic EB [RDEB]) were considered concordant, different EB types discordant, and non-specific/non-definitive results 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 JEB and RDEB, and the same for DDEB as compared to EBS. 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.CONCLUSION: 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.

View details for DOI 10.1016/j.jaad.2021.09.065

View details for PubMedID 34634382