Pyloric atresia with epidermolysis bullosa (EB) dystrophica is a rare entity that may not be immediately recognized. We describe the fourth confirmed case of pyloric atresia associated with the dystrophic subtype of EB diagnosed by standard pathologic measures, and discuss the clinical disease features and recent advances in the pathophysiology.
- Carmi Syndrome
- Epidermolysis bullosa
- Epidermolysis bullosa dystrophica
- Pyloric Atresia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health