We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin β4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin β4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin β4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.

中文翻译：

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伴有幽门闭锁的大疱性表皮松解症与复合杂合 ITGB4 致病变异相关：轻微的皮肤受累但严重的皮肤粘膜疾病

我们报告了一例伴有幽门闭锁的交界性大疱性表皮松解症 (JEB-PA)，皮肤受累极小，但蛋白质丢失性肠病和气道受累严重。遗传分析揭示了ITGB4 中的杂合突变编码整合素β4蛋白的基因。亲本检测证实移码变异 (c.794dupC) 为母本，剪接位点变异 (c.1608C>T/p.Cys536Cys) 为父本。她皮肤的免疫荧光图显示表皮下水疱，水疱底部和顶部的整合素 β4 减少和磨损，而肠粘膜显示整合素 β4 完全缺失。我们回顾了文献并讨论了整合素在皮肤和胃肠道中的差异表达，以及慢性炎症在 EB 发病机制中的作用。