{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:51Z","timestamp":1787014191577,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T00:00:00Z","timestamp":1661212800000},"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":["Experimental Dermatology"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Inherited epidermolysis bullosa (EB) simplex is a heterogeneous group of skin fragility disorders caused by mutations in genes encoding cell\u2010cell or cell\u2010matrix adhesion proteins. A recently identified, rare subtype of EB simplex is due to bi\u2010allelic mutations in the\n                    <jats:italic>EXPH5<\/jats:italic>\n                    gene, which encodes exophilin5, an effector protein of the Rab27B GTPase involved in intracellular vesicle trafficking and exosome secretion. The\n                    <jats:italic>EXPH5<\/jats:italic>\n                    EB subtype is characterized by early\u2010onset skin blisters and scars, mainly on extremities, and varying degrees of pigmentary alterations. Here, we present a 31\u2010year\u2010old female with diffuse guttate hypopigmentation on the trunk and extremities since early childhood, with no apparent blisters or scars. We employed whole exome sequencing of germline DNA extracted from the patient's leukocytes to determine the genetic aetiology of the phenotype. A novel homozygous variant in\n                    <jats:italic>EXPH5<\/jats:italic>\n                    , c.1153C&gt;T causing a premature stop codon at amino acid Glutamine 385, was identified. Histologic examination after skin pricking disclosed focal keratinocyte detachment typical to EB. Additionally, we identified a deleterious\u2010predicted variant in\n                    <jats:italic>ENPP1<\/jats:italic>\n                    , a gene associated with disturbed transfer of melanosomes to keratinocytes in Cole disease. Our report expands the clinical spectrum of inherited EB simplex with a possible di\u2010genic synergism contributing to co\u2010presentation with guttate leukoderma.\n                  <\/jats:p>","DOI":"10.1111\/exd.14661","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T10:24:05Z","timestamp":1660299845000},"page":"1927-1931","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Potential\n                    <scp>di\u2010genic<\/scp>\n                    contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex"],"prefix":"10.1111","volume":"31","author":[{"given":"Tamar","family":"Koren","sequence":"first","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadia","family":"Zagairy","sequence":"additional","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasmin","family":"Tatour","sequence":"additional","affiliation":[{"name":"The Genetic Institute \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hila","family":"Belhanes\u2010Peled","sequence":"additional","affiliation":[{"name":"The Institute of Tissue Diagnostics and Cancer Research Emek Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morad","family":"Khayat","sequence":"additional","affiliation":[{"name":"The Genetic Institute \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judit","family":"Krausz","sequence":"additional","affiliation":[{"name":"The Institute of Tissue Diagnostics and Cancer Research Emek Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Danial\u2010Farran","sequence":"additional","affiliation":[{"name":"The Genetic Institute \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Ziv","sequence":"additional","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5454-7242","authenticated-orcid":false,"given":"Eran","family":"Cohen\u2010Barak","sequence":"additional","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"},{"name":"Bruce and Ruth Rappaport Faculty of Medicine Technion  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.13668"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.012"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2016.2268"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16372"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2000"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.007"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.08.045"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.08.011"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(03)00058-9"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.006"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14661","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/exd.14661","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14661","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T17:52:12Z","timestamp":1692553932000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.14661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,23]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1111\/exd.14661"],"URL":"https:\/\/doi.org\/10.1111\/exd.14661","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,23]]},"assertion":[{"value":"2022-05-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}