فهرست نشریات علمی دسترسی آزاد ایران

Background: Epidermolysis bullosa (EB) is defined as a group of rare inherited medical conditions resulting in easy blistering of the epithelial tissues in response to mechanical trauma. EB is occasionally associated with systemic presentations. Case presentation: A newborn was referred to Shahid Rahimi hospital in Khorramabd, Iran, on 11/2/2021 due to skin lesions and poor feeding. The patient was later diagnosed with EB and coexisting pyloric atresia and underwent pyloric resection and gastroduodenostomy. Owing to the reported hydronephrosis on the ultrasound, the diagnosis of epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU), a multisystem variant of EB, was made. Discussion: A high phenotypic variability has been found among EB cases. One of the variants is EB-PA, which is an autosomal recessive genodermatosis. In some cases, ureteral and renal abnormalities coexist with EB-PA leading to a more complex variant named EB-PA-OU. Conclusion: Given the known association between EB and multiorgan abnormalities, a systemic evaluation is required to detect these disorders and prevent them from progressing to the irreversible stages.