Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.

Caiyun Luo,Liucheng Yang,Zhaorong Huang,Yuqian Su,Yi Lu,Daiyue Yu,Mengzhen Zhang,Kai Wu

Frontiers in pediatrics（2023）

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摘要

EB-PA is a rare genetic disorder characterized by increased skin fragility and PA involving mutations in the ITGB4, PLEC, or ITGA6 genes. EB-PA has a high incidence of complications and mortality, surgery and supportive therapy are currently the most common treatment options.

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关键词

clinical characteristics,epidermolysis bullosa,exome sequencing,molecular characteristics,newborns,pyloric atresia

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