Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant

نویسندگان

چکیده

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

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ژورنال

عنوان ژورنال: Cureus

سال: 2023

ISSN: ['2168-8184']

DOI: https://doi.org/10.7759/cureus.41167