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<p>Epidermolysis bullosa (EB) is a rare inherited blistering disorder requiring accurate diagnosis for prognostic assessment, genetic counseling, and clinical management. Conventional diagnostic modalities include immunofluorescence mapping (IFM) and transmission electron microscopy (TEM), while molecular techniques such as next-generation sequencing (NGS) have become increasingly available. However, comparative evidence on the diagnostic yield and clinical utility of these approaches remains limited. This study systematically reviews the literature evaluating IFM, TEM, and molecular diagnostic methods in EB. We conducted a systematic review of studies evaluating IFM, TEM, and/or molecular diagnostic methods for EB. PubMed, Scopus, EMBASE, and Web of Science were searched from inception to May 2025. Eligible studies included patients with suspected or confirmed EB and reported diagnostic outcomes for at least one modality. Study selection was performed using a structured screening process. Risk of bias was assessed using the Newcastle–Ottawa Scale and Joanna Briggs Institute tools. Due to substantial heterogeneity in study design, populations, and outcome definitions, findings were synthesized narratively. Thirty-four studies were included. Molecular diagnostics, particularly next-generation sequencing (NGS), showed the highest diagnostic yield (reported up to 95%) and shorter turnaround time than Sanger sequencing (median 39 vs. 211 days), although a higher proportion of variants of uncertain significance was also reported. IFM and TEM demonstrated moderate diagnostic yields (approximately 65–75%) and remained clinically valuable when molecular testing was unavailable or when sequencing results were inconclusive, especially for guiding targeted testing and subtype classification in resource-limited settings. Across studies, COL7A1 was the most frequently reported gene implicated in genetically confirmed cases. Current evidence supports NGS as the highest-yield approach for EB diagnosis, with IFM and TEM retaining complementary roles for rapid phenotypic localization, subtype support, and triage where sequencing is limited or non-diagnostic. Interpretation is constrained by heterogeneity in patient selection, reference standards, and outcome reporting; standardized definitions and reporting are needed to enable stronger cross-modality comparisons.</p>

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Diagnostic yield and clinical utility of immunofluorescence mapping, transmission electron microscopy, and molecular testing in epidermolysis bullosa: a systematic review

  • 期刊论文

  • 发表日期：

    2026年7月22日

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  • Husna I. Thalib,
  • Saifaleslam A. Mahmoud,
  • Memona Z. Ahmad,
  • Hosna H. Ali,
  • Dana S. Abou,
  • Rasil F. Alahmadi,
  • Bandar M. Abuageelah,
  • Nancy Shehata

摘要

Epidermolysis bullosa (EB) is a rare inherited blistering disorder requiring accurate diagnosis for prognostic assessment, genetic counseling, and clinical management. Conventional diagnostic modalities include immunofluorescence mapping (IFM) and transmission electron microscopy (TEM), while molecular techniques such as next-generation sequencing (NGS) have become increasingly available. However, comparative evidence on the diagnostic yield and clinical utility of these approaches remains limited. This study systematically reviews the literature evaluating IFM, TEM, and molecular diagnostic methods in EB. We conducted a systematic review of studies evaluating IFM, TEM, and/or molecular diagnostic methods for EB. PubMed, Scopus, EMBASE, and Web of Science were searched from inception to May 2025. Eligible studies included patients with suspected or confirmed EB and reported diagnostic outcomes for at least one modality. Study selection was performed using a structured screening process. Risk of bias was assessed using the Newcastle–Ottawa Scale and Joanna Briggs Institute tools. Due to substantial heterogeneity in study design, populations, and outcome definitions, findings were synthesized narratively. Thirty-four studies were included. Molecular diagnostics, particularly next-generation sequencing (NGS), showed the highest diagnostic yield (reported up to 95%) and shorter turnaround time than Sanger sequencing (median 39 vs. 211 days), although a higher proportion of variants of uncertain significance was also reported. IFM and TEM demonstrated moderate diagnostic yields (approximately 65–75%) and remained clinically valuable when molecular testing was unavailable or when sequencing results were inconclusive, especially for guiding targeted testing and subtype classification in resource-limited settings. Across studies, COL7A1 was the most frequently reported gene implicated in genetically confirmed cases. Current evidence supports NGS as the highest-yield approach for EB diagnosis, with IFM and TEM retaining complementary roles for rapid phenotypic localization, subtype support, and triage where sequencing is limited or non-diagnostic. Interpretation is constrained by heterogeneity in patient selection, reference standards, and outcome reporting; standardized definitions and reporting are needed to enable stronger cross-modality comparisons.