Article
Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Pediatric dermatology - 1 Jul 2021
Wee Lynette Wei Yi, Tan Ene Choo, Bishnoi Priya, Ng Yi Zhen, Lunny Declan Patrick, Lim Hwee-Woon, Lee Siew-Peng, Ong Christina, Yap Te Lu, Mok Yee Hui, Low Mei Yi, Chu-Tian Chow Cristelle, Derrick Lian, Common John Edmund Armourer, Birgitte Lane Ellen, Koh Mark Jean Aan
Abstract excerpt
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin β4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as...
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