A Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Due to Integrin β4 Gene Mutations
DOI:
https://doi.org/10.17140/DRMTOJ-4-134Keywords:
Epidermolysis bullosa, Pyloric atresia, ITGB4 mutationAbstract
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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