Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. (4th July 2017)

• Record Type: Journal Article
• Authors: Kayki, Gozdem; Bozkaya, Davut; Ozaltin, Fatih; Orhan, Diclehan; Kaymaz, Figen; Korkmaz, Emine; Yigit, Sule
• Is Part Of: Fetal and pediatric pathology. Volume 36:Number 4(2017)
• Page Start: 332
• Page End: 339
• Publication Date: 2017-07-04
• Subjects: Junctional epidermolysis bullosa -- pyloric atresia -- newborn -- mutation in ITGB4; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2017.1324545
• Languages: English
• ISSNs: 1551-3815

Abstract

ABSTRACT: Background : Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis. Case report : We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. Conclusion : The previously unreported homozygous c.3793+1G>A mutation affecting ITGB4 causes a severe form of junctional epidermolysis bullosa with pyloric atresia and aplasia cutis.