Fetal and pediatric pathology · 2017
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kayki Gozdem, Bozkaya Davut, Ozaltin Fatih, Orhan Diclehan, Kaymaz Figen, Korkmaz Emine, Yigit Sule
Аннотация
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.
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.