医学
闭锁
大疱性表皮松解症
交界性大疱性表皮松解症(兽医)
肾病综合征
皮肤病科
胃肠病学
内科学
生物化学
化学
突变
基因
作者
Kennedy Sabharwal,Ianna S. C. Blanchard,Emily S. Gorell,Mariam Iqneibi,Anne W. Lucky,David J. Worhunsky
摘要
ABSTRACT Epidermolysis bullosa with associated pyloric atresia (EB‐PA) is a rare subtype of epidermolysis bullosa with a high mortality characterized by skin fragility, pyloric atresia, as well as renal and ureteral abnormalities. We present a unique case of EB‐PA in a newborn male further complicated by esophageal atresia and nephrotic syndrome. We review the previously reported nine cases of EB‐PA with esophageal atresia. However, to our knowledge, this case represents a previously unreported phenotype of EB‐PA with esophageal atresia and nephrotic syndrome.
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