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., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.57, no.4, pp.385-387, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 4
  • Publication Date: 2015
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.385-387

Abstract

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.