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Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions

Authors
 Taehee Kim  ;  Soo-Chan Kim  ;  Sang Eun Lee 
Citation
 PEDIATRIC DERMATOLOGY, Vol.40(6) : 1149-1151, 2023-11 
Journal Title
PEDIATRIC DERMATOLOGY
ISSN
 0736-8046 
Issue Date
2023-11
MeSH
Biopsy ; Humans ; Hyperkeratosis, Epidermolytic* / diagnosis ; Hyperkeratosis, Epidermolytic* / genetics ; Infant, Newborn ; Keratin-1 / genetics ; Mutation ; Skin / pathology
Keywords
dermatopathology ; genodermatoses ; ichthyosis
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.
Full Text
https://onlinelibrary.wiley.com/doi/10.1111/pde.15354
DOI
10.1111/pde.15354.
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/197580
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