Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His). A mu...
Saved in:
| Main Authors: | Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-08-01
|
| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.70682 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings
by: Pooja Shah, et al.
Published: (2025-03-01) -
Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings
by: Pooja Shah, et al.
Published: (2025-03-01) -
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases
by: Ruiyu Xiang, et al.
Published: (2025-07-01) -
Congenital Segmental Erosions and Hyperkeratotic Plaques in a Male Infant: A Quiz
by: Kaan Yilmaz, et al.
Published: (2025-06-01) -
Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link
by: Jing Yi Han, BSc (Hons), et al.
Published: (2025-08-01)