Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)


MUTLU M. , KALAY E. , DİLBER B. , ASLAN Y. , DİLBER E. , Almaani N., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.57, ss.385-387, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 57 Konu: 4
  • Basım Tarihi: 2015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.385-387

Özet

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 dermalepidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the alpha 6 beta 4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation.