EB Simplex with Pyloric Atresia

    EB Simplex - Pyloric atresia (EBS-PA) is another very rear form of EBS.  EB- PA is present at birth with widespread blistering. Pyloric atresia -  Presence of a stricture or narrowing in the stomach at the pylorus, a muscle, that prevents stomach contents from passing into the intestines. An Affected person  could  develop abdominal distention, vomiting, dehydration and electrolyte abnormalities within the first few weeks of life, and death may occur if pyloric atresia is not recognized and treated promptly through surgery. To found it if your infant has this you can do ultrasound or contrast-enhanced X-ray such as an upper gastrointestinal barium study.

          Although Milia-  Small, superficial white cysts that may form before blistering do not occur, scarring is common. Congenital localized absence of skin - Also known as aplasia cutis congenita and historically as Bart's syndrome, these are areas of thin, atrophic skin that appear at birth. Has also been reported with EBS-PA.

          Dental enamel is normal, and there does not appear to be an increased tendency to dental caries. Blistering of the mouth is common, and affected children typically develop poor growth and anemia.

          An affected person typically do not have a problems with the trachea/respiratory tract, intestines/gastrointestinal tract, eyes or genitourinary tract.