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Correlating clinical and laboratory diagnostic modalities in the diagnosis of epidermolysis bullosa in a resource poor setting

Journal of Cutaneous Pathology Feb 10, 2022

Relative to next-generation sequencing (NGS), the highest concordance was observed with clinical diagnostic matrix (CDM) followed by transmission electron microscopy (TEM) and immunofluorescence antigen mapping (IFM) in diagnosing major subtypes of EB in this prospective diagnostic study.

  • This study included 80 patients diagnosed with CDM; of whom skin biopsies of 42 were evaluated employing TEM, and of 59 via IFM; NGS was employed in 39 cases.

  • Concordance with CDM, TEM and IFM were estimated at 84.6% (33/39), 78.5% (11/14), and 76% (19/25) respectively, when NGS was considered as the gold standard for diagnosing EB (n = 39 patients).

  • CDM demonstrated a substantial agreement with NGS.

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