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.
منابع مشابه
Epidermolysis Bullosa associated with pyloric stenosis: A case report
Epidermolysis bullosa are a group of hereditary skin diseases manifested as blisters on the sites of trauma to the skin. According to the level of blister development, epidermolysis bullosa are divided into the following groups: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. The latter two groups are associated with poorer prognosis and hig...
متن کاملEpidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn.
Epidermolysis bullosa (EB) is an inherited blistering disorder characterized by the fragility of the skin and mucous membranes. Extracutaneous manifestations can be associated. We report a unique concomitant occurrence of EB and hypertrophic pyloric stenosis in a newborn.
متن کاملCase of Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB wit...
متن کاملPrenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...
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ژورنال
عنوان ژورنال: Cureus
سال: 2023
ISSN: ['2168-8184']
DOI: https://doi.org/10.7759/cureus.41167