AI Article Synopsis
- Epidermolytic ichthyosis (EI) is a rare genetic disorder caused by mutations in the KRT1 or KRT10 genes, leading to abnormal skin keratinization.
- The typical histopathological sign of EI, known as epidermolytic hyperkeratosis (EHK), may not be present in all cases, especially if skin biopsies are taken in early infancy.
- This report presents two cases of EI with confirmed KRT1 mutations where EHK was not observed in skin biopsies taken within the first week of life.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/pde.15354 | DOI Listing |
Publication Analysis
Top Keywords
cases krt1
8
epidermolytic ichthyosis
8
epidermolytic hyperkeratosis
8
krt1 mutation-associated
4
epidermolytic
4
mutation-associated epidermolytic
4
ichthyosis typical
4
typical epidermolytic
4
hyperkeratosis neonatal
4
neonatal skin
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!