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.

Localized non- Herlitz Junctional EB

           Localized non- Herlitz JunctionalEB, which is caused by mutations in the collagen type XVII gene.

          Localized Non-Herlitz JEB presents at birth with fewer, more localized blisters and erosions. Milia, scarring and nail dystrophy are common. Granulation tissue is not seen.

          Poor dental enamel, oral erosions and dental caries may be seen. You can have poor growth, anemia, and blistering another problems involving the trachea/respiratory tract, intestines/gastrointestinal tract .

Non-Herlitz Junctional EB

Non-Herlitz Junctional EB (JEB-nH) generally is less severe then Herlitz JEB, and there are two main types: Generalized non-Herlitz JEB, which may be caused y mutations in the collagen XVII gene or the laminin -332 gene. Localized non- Herlitz JEB, which is caused by mutations in the collagen type XVII gene.

          Generalized Non-Herlitz JEB is presents at birth with widespread blistering and erosions. Blistering usually is worse in periods of warm, humid weather. Milia scarring and nail dystrophy are common and mild thickening of the skin on the palms and soles my occur. Blistering on the scalp is common, and permanent hair loss may occur.

          Poor dental enamel, oral erosions and dental caries are common, often necessitating extensive dental reconstruction. you can have poor growth, anemia, and blistering and other problems that could involving the trachea/respiratory tract, intense/gastrointestinal tract.

          you could get blisters in your larynx which could cause scars and a hoarse cry during infancy, and a hoarse, husky voice may remain through adulthood. Tracheal blisters may occur in individuals with JEB-nH, and, if they occur when the affected person is an infant with a relatively small trachea, they may cause occlusion of the trachea and suffocation if not recognized and treated.

Herlitz Junctional EB

       Herlitz Junctional EB is the most severe subtype of JEB. It is caused by mutations in the laminin gene. Affected people generally present at birth with severe, widespread blisters, although, in some cases, blistering at birth may be mild. After someone is born with Herlitz JEB the skin begins to get more blister and more sores.  They can get sore around the diaper area, nose and mouth and on the nail beds and the fingertips and toes, on the scalp and on the neck.

          Poor dental enamel, oral erosions and dental caries are common. Poor growth, anemia, and blistering and other problems involving the trachea/respiratory tract, intestines/gastrointestinal tract, eyes or genitourinary tract are common. Laryngeal blisters and resultant scars cause a hoarse cry during infancy. Tracheal blistering and scarring may cause occlusion of the trachea and suffocation if not recognized and treated.  

JUNCTIONAL EB

Junctional EB - The blistering occurs at the lamina lucida level of the skin. Approximately 10% of people with EB will have JEB. All subtypes of JEB is inherited as a recessive disorder. With recessive traits and disorders, two copies of the gene are required in order for the trait or disorder to be present; therefore the parents do not have EB. They are called “carriers.”  In order for EB to occur in their children, both parents must pass the abnormal copy of the gene to child. There is a 25% chance (1:4), The birth of a child  with JEB is totally unexpected. Children that are born with JEB could die within the first two years.  The reason for that is malnutrition and anemia. This would be caused by blistering in the pharynx and the esophagus. There is about three types of JEB.