We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Two cases of KRT1 mutation‐associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
- Authors
Kim, Taehee; Kim, Soo‐Chan; Lee, Sang Eun
- 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.
- Subjects
SKIN biopsy; ICHTHYOSIS; GENETIC disorders; KERATINIZATION
- Publication
Pediatric Dermatology, 2023, Vol 40, Issue 6, p1149
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15354