Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10
Autor: | Kurz, Bernadett, Koschitzki, Kevin-Thomas, Hehr, Ute, Germer, Ute, Schreml, Julia, Langhammer, Florian, Schreml, Stephan |
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Rok vydání: | 2023 |
Předmět: | |
Zdroj: | JAAD Case Rep |
DOI: | 10.5283/epub.54229 |
Popis: | Neonatal erythroderma (NE) is an erythema that covers at least 90% of the body surface and occurs at birth or in the first 4 postnatal weeks.1 The incidence of NE in patients in the Netherlands has been estimated by dermatologists to be 10 per 100,000 newborns.1 In congenital ichthyosiform erythroderma (CIE), the presence or absence of a collodion membrane and/or extracutaneous findings is crucial to narrow down possible differential diagnoses. Here, we describe a keratinopathic form of NE or CIE due to a mutation in the KRT10 gene. Additionally, 2 variants, 1 pathogenic and 1 of unclear significance, of FLG were detected. |
Databáze: | OpenAIRE |
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