A baby diagnosed with epidermolysis bullosa associated with antral web

Alfayez, Adel Ahmed; Almutawa, Renad Abdulaziz; Almesaibli, Mohammad; Albassam, A.A.

doi:10.1016/j.epsc.2023.102641

Cited by 1 publication

(2 citation statements)

References 16 publications

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“…Pyloric atresia in EB is also a result of scarring. Dysfunctional or absent hemidesmosomes result in the separation of the epidermis or the intestinal mucosa, with consequent inflammation and fibrosis, leading to obstruction in areas like the pylorus [ 3 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

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Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant

Ghazzawi,

Fatma

2023

Cureus

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Epidermolysis bullosa (EB) is a rare and genetically inherited skin fragility disorder causing mucocutaneous blistering, erosion, and ulceration as a result of even minor trauma. Junctional EB (JEB), which is a type of EB, is inherited via an autosomal recessive pattern and characterized by blisters that appear in the lamina lucida of the basement membrane zone, which is the junction between the epidermis and dermis. The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. We present a case of lethal JEB and pyloric atresia with aplasia cutis congenita (ACC), with a homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup. The diagnosis was made by whole exome sequencing (WES) postnatally after consecutive third pregnancy loss in the last trimester in a consanguineous couple. As these cases have a poor prognosis, genetic counseling, invasive prenatal testing, and preimplantation genetic diagnosis (PGD) have an evolving and indispensable role in the management of future pregnancies.

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Section: Discussionmentioning

confidence: 99%

“…Prenatal ultrasounds can help screen for JEB-PA, according to a systematic review of 100 articles by Mylonas et al in 2018 [ 6 ]. Prenatal ultrasounds may show signs of urinary, jejunal, or duodenal atresia, gastric dilatation that indicates gastric outlet obstruction, and polyhydramnios.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant

Ghazzawi,

Fatma

2023

Cureus

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A baby diagnosed with epidermolysis bullosa associated with antral web

Cited by 1 publication

References 16 publications

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant

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