A Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Due to Integrin β4 Gene Mutations

Authors

  • Nagisa Yoshihara
  • Hajime Nakano
  • Daisuke Sawamura
  • Asami Kamata
  • Hiroyuki Matsuzaki
  • Takashi Etoh

Keywords:

Epidermolysis bullosa, Pyloric atresia, ITGB4 mutation

Abstract

Junctional epidermolysis bullosa with pyloric atresia is a rare bullous disease with autosomal recessive inheritance caused by
abnormalities in the integrin α6 (ITGA6) or integrin β4 (ITGB4) gene. Its clinical symptoms range from mild to fatal. Herein, we
report a case of mild junctional epidermolysis bullosa with pyloric atresia caused by compound heterozygous mutations in the
ITGB4 gene.

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Published

2019-04-10

How to Cite

Nagisa Yoshihara, Hajime Nakano, Daisuke Sawamura, Asami Kamata, Hiroyuki Matsuzaki, & Takashi Etoh. (2019). A Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Due to Integrin β4 Gene Mutations. Dermatology, 4(1), 7–9. Retrieved from https://openventio.us/index.php/DER/article/view/1284

Issue

Vol. 4 No. 1 (2019): Volume 4 Issue 1 2019

Section

Articles