Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis
| Dublin Core | PKP Metadata Items | Metadata for this Document | |
| 1. | Title | Title of document | Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis |
| 2. | Creator | Author's name, affiliation, country | Phanitchanat Phusuphitchayanan; Institute of Dermatology, Department of Medical Services, Ministry of Public Health, Phayathai, Bangkok 10400,; Thailand |
| 2. | Creator | Author's name, affiliation, country | Apasee Sooksamran; Institute of Dermatology, Department of Medical Services, Ministry of Public Health, Phayathai, Bangkok 10400,; Thailand |
| 2. | Creator | Author's name, affiliation, country | Chavalit Supsrisunjai; Institute of Dermatology, Department of Medical Services, Ministry of Public Health, Phayathai, Bangkok 10400,; Thailand |
| 3. | Subject | Discipline(s) | |
| 3. | Subject | Keyword(s) | bullous congenital ichthyosiform erythroderma; epidermolytic hyperkeratosis; epidermolytic ichthyosis; KRT10; p.Arg156His |
| 4. | Description | Abstract | Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report a 39-year-old woman with EI, who presented with generalized erythroderma since birth, followed by generalized hyperkeratosis later in life. The physical examination revealed generalized hyperkeratosis without blistering or erosion. The histopathological studies revealed hyperkeratosis with parakeratosis and psoriasiform hyperplasia, without significant epidermolysis. The Sanger sequencing revealed a missense mutation—c.467G>A (p.Arg156His)—in the KRT10 gene, confirming the diagnosis of EI. The genotype-phenotype correlations in EI patients are multifactorial. Thus, molecular analysis can confirm the diagnosis in cases of an unclear medical history or histological inconclusiveness. |
| 5. | Publisher | Organizing agency, location | Faculty of Medicine, Prince of Songkla University |
| 6. | Contributor | Sponsor(s) | |
| 7. | Date | (YYYY-MM-DD) | 2023-03-24 |
| 8. | Type | Status & genre | Peer-reviewed Article |
| 8. | Type | Type | |
| 9. | Format | File format | |
| 10. | Identifier | Uniform Resource Identifier | https://jhsmr.org/index.php/jhsmr/article/view/914 |
| 10. | Identifier | Digital Object Identifier (DOI) | http://dx.doi.org/10.31584/jhsmr.2022914 |
| 11. | Source | Title; vol., no. (year) | Journal of Health Science and Medical Research; Vol 41, No 3 (2023): May-Jun |
| 12. | Language | English=en | en |
| 13. | Relation | Supp. Files | |
| 14. | Coverage | Geo-spatial location, chronological period, research sample (gender, age, etc.) | |
| 15. | Rights | Copyright and permissions |
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