Junctional EB with Pyloric Atresia

           Junctional EB- Pyloric Atresia is presents at birth with widespread blisters and erosions.  Although milia are not common, scarring and nail dystrophy.  Oral erosions may occur, and dental enamel hypolasia and dental caries may be more common. The key feature is the presence of pylocic atresia.         

          Pyloric atresia is the presence of a stricture or narrowing in the stomach at the pylorus, a muscle, that prevents stomach contents from passing into the intestines. Affected infants develop abdominal distention, vomiting, dehydration and electrolyte abnormalities within the first few weeks of life, and death is possible if pyloric atresia is not recognized and treated promptly through surgery.  

            You can have an ultrasound or contrast-enhanced X-ray such as an upper gastrointestinal barium study done to see if you have stricture or narrowing.