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: | , , , , |
|---|---|
| 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!
|
| _version_ | 1849229073168990208 |
|---|---|
| author | Elke Smits Gunnar Naulaers Maria C. Bolling Eric Legius Caroline Colmant |
| author_facet | Elke Smits Gunnar Naulaers Maria C. Bolling Eric Legius Caroline Colmant |
| author_sort | Elke Smits |
| collection | DOAJ |
| description | 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 multidisciplinary approach is essential for accurate diagnosis and treatment of neonatal blistering conditions. |
| format | Article |
| id | doaj-art-1c196f7fef2c477b95c772d8c0e442d2 |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-1c196f7fef2c477b95c772d8c0e442d22025-08-22T07:33:07ZengWileyClinical Case Reports2050-09042025-08-01138n/an/a10.1002/ccr3.70682Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case ReportElke Smits0Gunnar Naulaers1Maria C. Bolling2Eric Legius3Caroline Colmant4Department of Pediatrics University Hospitals Leuven Leuven BelgiumDepartment of Development and Regeneration KU Leuven Leuven BelgiumDepartment of Dermatology University Medical Center, University of Groningen Groningen the NetherlandsDepartment of Human Genetics KU Leuven and University Hospital Leuven Leuven BelgiumDepartment of Dermatology University Hospitals Leuven Leuven BelgiumABSTRACT 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 multidisciplinary approach is essential for accurate diagnosis and treatment of neonatal blistering conditions.https://doi.org/10.1002/ccr3.70682blistering skin diseasecongenital erythrodermaepidermolysis bullosaepidermolytic hyperkeratosisepidermolytic ichthyosis |
| spellingShingle | Elke Smits Gunnar Naulaers Maria C. Bolling Eric Legius Caroline Colmant Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report Clinical Case Reports blistering skin disease congenital erythroderma epidermolysis bullosa epidermolytic hyperkeratosis epidermolytic ichthyosis |
| title | Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report |
| title_full | Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report |
| title_fullStr | Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report |
| title_full_unstemmed | Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report |
| title_short | Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report |
| title_sort | neonatal epidermolytic ichthyosis caused by a krt10 mutation c 467g a p arg156his a case report |
| topic | blistering skin disease congenital erythroderma epidermolysis bullosa epidermolytic hyperkeratosis epidermolytic ichthyosis |
| url | https://doi.org/10.1002/ccr3.70682 |
| work_keys_str_mv | AT elkesmits neonatalepidermolyticichthyosiscausedbyakrt10mutationc467gaparg156hisacasereport AT gunnarnaulaers neonatalepidermolyticichthyosiscausedbyakrt10mutationc467gaparg156hisacasereport AT mariacbolling neonatalepidermolyticichthyosiscausedbyakrt10mutationc467gaparg156hisacasereport AT ericlegius neonatalepidermolyticichthyosiscausedbyakrt10mutationc467gaparg156hisacasereport AT carolinecolmant neonatalepidermolyticichthyosiscausedbyakrt10mutationc467gaparg156hisacasereport |