EBS with Pyloric Atresia (EBS-PA) is another very rare form of EB simplex that is thought to be autosomal recessive in inheritance and is due to plectin mutations. It presents at birth with widespread blistering. 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 may occur if pyloric atresia is not recognized and treated promptly through surgery.
Diagnosis may be aided by an ultrasound or contrast-enhanced X-ray such as an upper gastrointestinal barium study. Although milia do not occur, scarring is common. Congenital localized absence of skin 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. W
ith the exception of pyloric atresia and chronic constipation, affected children typically do not have problems with the trachea/respiratory tract, intestines/gastrointestinal tract, eyes or genitourinary tract. There is no increased risk of skin cancer. Other reported features include deformity of the ears and nose, joint contractures and failure of the testicles to descend (cryptorchidism).