{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:08:37Z","timestamp":1787015317009,"version":"build-2736575974"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T00:00:00Z","timestamp":1612483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Epidermolysis bullosa (EB) comprises a heterogeneous group of skin fragility disorders, classified in four major types based on skin cleavage level, i.e. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler EB, and in more than 30 subtypes defined by the combination of laboratory and clinical data, including disease course.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Our aims were to address whether, in the age of genomics, electron microscopy (TEM) has still a role in diagnosing EB, and whether the genotype\n                      <jats:italic>per se<\/jats:italic>\n                      may be sufficient to sub\u2010classify EB.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A thoroughly characterized single\u2010centre EB case series was retrospectively evaluated to compare the power of TEM with immunofluorescence mapping (IFM) in establishing the EB type, and the ability of TEM, IFM and genetics to predict selected EB subtypes, i.e. severe dominant EBS (DEBS), severe JEB, severe recessive DEB (RDEB) and DEB self\u2010improving, using genetic and final diagnosis, respectively, as gold standard.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The series consisted of 87 patients, including 44 newborns, with a median follow\u2010up of 54\u00a0months. Ninety\u2010five mutations were identified in EB\u2010associated genes, including 25 novel variants. Both IFM and TEM were diagnostic in about all cases of JEB (21\/21 for both) and DEB (43\/44 for IFM, 44\/44 for TEM). TEM sensitivity was superior to IFM for EBS (19\/20 vs. 16\/19). As to EB subtyping, IFM performed better than genetics in identifying severe JEB cases due to laminin\u2010332 defect (14\/14 vs. 10\/14) and severe RDEB (eight\/nine vs. seven\/nine). Genetics had no role in self\u2010improving DEB diagnosis; it almost equalled TEM in predicting severe DEBS (eight\/nine vs. nine\/nine) and enabled to discriminate dominant from recessive non\u2010severe DEB phenotypes and to identify special subtypes, e.g. DEBS with\n                      <jats:italic>KLHL24<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Transmission electron microscopy remains relevant to the diagnosis of EBS. IFM and genetics are essential and complementary tools in the vast majority of EB cases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jdv.17060","type":"journal-article","created":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T02:35:18Z","timestamp":1607049318000},"page":"1007-1016","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub\u2010classification of inherited epidermolysis bullosa: a single\u2010centre retrospective comparative study of 87 cases with long\u2010term follow\u2010up"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1477-8855","authenticated-orcid":false,"given":"S.","family":"Rossi","sequence":"first","affiliation":[{"name":"Pathology Unit, Department of Laboratories Bambino Ges\u00f9 Children's Hospital, IRCCS Rome 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