由KRT10突变（c.467G>A，p.Arg156His）引起的新生儿表皮松解性鱼鳞病：一例报告
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report.
作者信息
Smits Elke, Naulaers Gunnar, Bolling Maria C, Legius Eric, Colmant Caroline
机构信息
Department of Pediatrics University Hospitals Leuven Leuven Belgium.
Department of Development and Regeneration KU Leuven Leuven Belgium.
出版信息
Clin Case Rep. 2025 Jul 29;13(8):e70682. doi: 10.1002/ccr3.70682. eCollection 2025 Aug.
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 gene (c.467G>A, p.Arg156His). A multidisciplinary approach is essential for accurate diagnosis and treatment of neonatal blistering conditions.
我们报告一例新生儿皮肤水疱和红斑病例。虽然最初怀疑是大疱性表皮松解症，但免疫荧光抗原定位和基因检测确诊为表皮松解性鱼鳞病，该基因存在杂合致病性变异（c.467G>A，p.Arg156His）。多学科方法对于准确诊断和治疗新生儿水疱性疾病至关重要。
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