Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations
نویسندگان
چکیده
منابع مشابه
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with py...
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 کاملITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.
Junctional epidermolysis bullosa (JEB) is an autosomal recessive, clinically and genetically heterogeneous disorders (1). A variety of extracutaneous complications may also arise, including gastrointestinal and genito-urinary tract involvements (1, 2). Genito-urinary involvement is particularly common in JEB with congenital pyloric atresia (JEB-PA; MIM 226730) associated with germline mutations...
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: Pediatric Research
سال: 2001
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-200105000-00003