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Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions
DC Field | Value | Language |
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dc.contributor.author | 이상은 | - |
dc.date.accessioned | 2024-01-03T01:32:22Z | - |
dc.date.available | 2024-01-03T01:32:22Z | - |
dc.date.issued | 2023-11 | - |
dc.identifier.issn | 0736-8046 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/197580 | - |
dc.description.abstract | Epidermolytic ichthyosis (EI) is a rare genetic disorder of keratinization caused by mutations in either KRT1 or KRT10. Histopathologically, epidermolytic hyperkeratosis (EHK) is a hallmark of EI. Here, we report two EI cases in which KRT1 mutation was confirmed by molecular study, but without typical EHK present on skin biopsies performed within 1 week of age. Our cases demonstrate that EHK may not be evident in EI if skin biopsy is performed during the neonatal period. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Wiley | - |
dc.relation.isPartOf | PEDIATRIC DERMATOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Biopsy | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Hyperkeratosis, Epidermolytic* / diagnosis | - |
dc.subject.MESH | Hyperkeratosis, Epidermolytic* / genetics | - |
dc.subject.MESH | Infant, Newborn | - |
dc.subject.MESH | Keratin-1 / genetics | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Skin / pathology | - |
dc.title | Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Dermatology (피부과학교실) | - |
dc.contributor.googleauthor | Taehee Kim | - |
dc.contributor.googleauthor | Soo-Chan Kim | - |
dc.contributor.googleauthor | Sang Eun Lee | - |
dc.identifier.doi | 10.1111/pde.15354. | - |
dc.contributor.localId | A02826 | - |
dc.relation.journalcode | J02483 | - |
dc.identifier.eissn | 1525-1470 | - |
dc.identifier.pmid | 37170713 | - |
dc.identifier.url | https://onlinelibrary.wiley.com/doi/10.1111/pde.15354 | - |
dc.subject.keyword | dermatopathology | - |
dc.subject.keyword | genodermatoses | - |
dc.subject.keyword | ichthyosis | - |
dc.contributor.alternativeName | Lee, Sang Eun | - |
dc.contributor.affiliatedAuthor | 이상은 | - |
dc.citation.volume | 40 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 1149 | - |
dc.citation.endPage | 1151 | - |
dc.identifier.bibliographicCitation | PEDIATRIC DERMATOLOGY, Vol.40(6) : 1149-1151, 2023-11 | - |
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