Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant

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.