Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB

KAYKI G. , Bozkaya D. , Fatih O., ORHAN D. , Kaymaz F., KORKMAZ E., ...Daha Fazla

FETAL AND PEDIATRIC PATHOLOGY, cilt.36, ss.332-339, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 36 Konu: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1080/15513815.2017.1324545
  • Sayfa Sayıları: ss.332-339


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 alpha 6 beta 4 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.