SNP Shot: Genomic Insights

Epidermolysis bullosa with pyloric atresia (EB-PA) is a disorder impacting both the skin and the digestive system. It's a specific type of epidermolysis bullosa (EB), a collection of inherited diseases characterized by extremely fragile skin that blisters easily. Infants with EB-PA typically present at birth with extensive blistering and areas of skin loss. New blisters develop readily due to minor trauma like rubbing or scratching. These blisters commonly appear all over the body, including the mucous membranes lining the mouth and digestive tract.

A key feature of EB-PA is pyloric atresia, a congenital blockage or obstruction in the pylorus, the lower section of the stomach. This blockage prevents the normal passage of food from the stomach into the intestines. Pyloric atresia manifests with symptoms such as vomiting, abdominal swelling (distention), and a lack of bowel movements. This condition is life-threatening and requires immediate surgical intervention after birth.

Further complications associated with EB-PA can include skin fusion between the digits (fingers and toes), nail abnormalities, joint contractures that limit movement, and hair loss (alopecia). Some individuals with EB-PA may also have birth defects affecting the urinary system, including the kidneys and bladder.

Due to the severity of EB-PA's symptoms, many infants with this condition do not survive beyond their first year. While some survivors experience improvement over time with reduced or absent blistering, others continue to face significant health challenges. These include persistent blistering and the development of granulation tissue, characterized by red, bumpy patches. Granulation tissue typically forms around the mouth, nose, fingers, and toes, and can also accumulate in the airway, causing breathing difficulties.

Inheritance:

EB-PA follows an autosomal recessive inheritance pattern. This means that an individual must inherit two mutated copies of the responsible gene, one from each parent, to develop the condition. The parents, each carrying only one copy of the mutated gene, are typically asymptomatic carriers.