Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling.

中文翻译：

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新生儿大疱性表皮松解症、幽门闭锁和先天性皮肤发育不全的ITGB4基因新突变

大疱性表皮松解症伴幽门闭锁 (EB-PA)，也称为 Carmi 综合征，是一种罕见的常染色体隐性遗传性皮肤病，通常影响皮肤和胃肠道。EB-PA 是由染色体 2q31.1 上的整合素 α 6 (ITGA6) 基因或 17q25.1 上的整合素β 4 (ITGB4) 基因中的纯合或复合杂合突变引起的。一名男性早产儿出生时患有皮肤发育不良、幽门闭锁和双侧肾积水。他的临床和影像学发现与 EB-PA 相符。鉴定了 ITGB4 基因中外显子 6 的最后两个碱基和内含子 6 的前两个核苷酸 (c.565_566+2del) 的新的小缺失。已知 EB-PA-先天性皮肤发育不全是一种不可治疗的疾病，与报道的病例一样预后不良。该患者报告的新突变可能导致这种疾病的致命形式。识别潜在的遗传异常对于提供遗传咨询至关重要。