{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T03:52:49Z","timestamp":1788580369236,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,1,19]],"date-time":"2020-01-19T00:00:00Z","timestamp":1579392000000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hoarse cry and respiratory stridor are the signs of potentially life\u2010threatening laryngeal involvement in selected severe and frequently early lethal subtypes of inherited epidermolysis bullosa (EB). We present a newborn with generalized skin blistering and onychodystrophy who developed a hoarse cry and inspiratory stridor. Ultrastructural skin examination revealed tonofilament clumping in basal keratinocytes and genetic testing identified the de novo missense mutation p.Arg125Cys in the <jats:italic>KRT14<\/jats:italic> gene, consistent with EB simplex generalized severe, which is characterized by major morbidity in infancy but a favorable long\u2010term prognosis. The present case underlines the importance to consider EB simplex generalized severe in the differential diagnosis of EB infants presenting hoarseness and stridor.<\/jats:p>","DOI":"10.1111\/pde.14105","type":"journal-article","created":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T07:45:21Z","timestamp":1579506321000},"page":"393-395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0879-9825","authenticated-orcid":false,"given":"Andrea","family":"Diociaiuti","sequence":"first","affiliation":[{"name":"Dermatology Unit Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Giancristoforo","sequence":"additional","affiliation":[{"name":"Dermatology Unit Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Pisaneschi","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo Giuseppe","family":"Condorelli","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Boldrini","sequence":"additional","affiliation":[{"name":"Pathology Unit Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zambruno","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8145-4797","authenticated-orcid":false,"given":"May","family":"El Hachem","sequence":"additional","affiliation":[{"name":"Dermatology Unit Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90051-Y"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23818.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1986.01660140080023"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2000.03304.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14105","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14105","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T15:01:09Z","timestamp":1694012469000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,19]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1111\/pde.14105"],"URL":"https:\/\/doi.org\/10.1111\/pde.14105","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,19]]},"assertion":[{"value":"2020-01-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}