Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Wee LWY, Tan EC, Bishnoi P, Ng YZ, Lunny DP, Lim HW, Lee SP, Ong C, Yap TL, Mok YH, Low MY, Chu-Tian Chow C, Derrick L, Common JEA, Birgitte Lane E, Koh MJA.
Wee LWY, et al.
Pediatr Dermatol. 2021 Jul;38(4):908-912. doi: 10.1111/pde.14668. Epub 2021 Jun 21.
Pediatr Dermatol. 2021.
PMID: 34152038
Review.
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. ...
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal sk …