PT  - JOURNAL ARTICLE
AU  - Reddy, M Sai Pratap
AU  - Anand, Rohit
AU  - Padhi, Phalguni
AU  - Katravath, Shirisha
TI  - Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant
AID  - 10.1136/bcr-2024-260488
DP  - 2024 Jul 01
TA  - BMJ Case Reports
PG  - e260488
VI  - 17
IP  - 7
4099  - http://casereports.bmj.com/content/17/7/e260488.short
4100  - http://casereports.bmj.com/content/17/7/e260488.full
SO  - BMJ Case Reports2024 Jul 01; 17
AB  - A term male baby was born vaginally to a primi mother. An antenatal ultrasound revealed polyhydramnios and a distended stomach in the baby. At birth, the baby had well-defined areas of peeling skin on the face and blisters on the forearm region. The abdominal X-ray revealed a single gastric bubble, which is consistent with pyloric atresia and needs surgery. Pyloroplasty was initially performed, but it was unsuccessful. Therefore, a feeding jejunostomy and gastrostomy were performed. However, the baby developed sepsis and septic shock and died at about 2 months of age. Skin biopsy revealed cleavage above the lamina densa, and genetic analysis indicated heterozygosity in ITGB4 exons 10 and 16, which are associated with epidermolysis bullosa junctionalis and pyloric atresia.