{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T08:12:04Z","timestamp":1769155924258,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T00:00:00Z","timestamp":1587081600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2020,4,17]]},"abstract":"<jats:p>We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel <jats:italic>de novo<\/jats:italic> heterozygous variant, c.377T&gt;G (NM_000526.5 (c.377T&gt;G, p.Leu126Arg)) in the <jats:italic>KRT14<\/jats:italic> gene and the second case was due to a rare <jats:italic>de novo<\/jats:italic> heterozygous variant c.527A&gt;G (NM_000424.4, c.527A&gt;G, p.Asn176Ser) in the <jats:italic>KRT5<\/jats:italic> gene. To our knowledge, the c.377T&gt;G variant in the <jats:italic>KRT14<\/jats:italic> gene has not been previously reported, and the c.527A&gt;G variant in the <jats:italic>KRT5<\/jats:italic> gene is a rare cause of severe generalized EBS. In severe generalized EBS, infants exhibit severe symptoms at the onset; however, they tend to improve with time. A precise genetic diagnosis in these two cases aided in counseling the families concerning the prognosis in their affected children and the recurrence risk for future pregnancies.<\/jats:p>","DOI":"10.1155\/2020\/4206348","type":"journal-article","created":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T23:30:43Z","timestamp":1587166243000},"page":"1-5","source":"Crossref","is-referenced-by-count":6,"title":["Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to <i>De Novo<\/i> Variants in <i>KRT14<\/i> and <i>KRT5<\/i>"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9675-7424","authenticated-orcid":true,"given":"Shuk Ching","family":"Chong","sequence":"first","affiliation":[{"name":"Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong"},{"name":"The Chinese University of Hong Kong, Baylor College of Medicine Joint Center for Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6682-5529","authenticated-orcid":true,"given":"Kam Lun","family":"Hon","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3502-8460","authenticated-orcid":true,"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"The Chinese University of Hong Kong, Baylor College of Medicine Joint Center for Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA"},{"name":"Texas Children\u2019s Hospital, Houston, Texas, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7759-1000","authenticated-orcid":true,"given":"Chung Mo","family":"Chow","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5962-020X","authenticated-orcid":true,"given":"Yu Ming","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9968-1050","authenticated-orcid":true,"given":"Tor Wo","family":"Chiu","sequence":"additional","affiliation":[{"name":"Division of Plastic Reconstructive and Aesthetic Surgery, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2254-6971","authenticated-orcid":true,"given":"Alexander K. 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