Introduction
There is a rare genetic condition called epidermolysis bullosa with pyloric atresia (EB-PA), which is characterized by fragile skin and abnormal growth of the pylorus, which connects the stomach with the small intestine. Due to a blockage of the pylorus, the condition causes severe blistering of the skin and mucous membranes, as well as gastrointestinal complications.
Causes
This condition is caused by mutations in the ITGA6, ITGB4, or PLEC genes, which encode proteins essential for maintaining the structural integrity of the skin and mucosal surfaces. In addition to extreme skin fragility and blistering, mutations disrupt the connections between skin layers. Pyloric atresia, a narrowing or complete obstruction of the pylorus, is also caused by the same mutations of the gastrointestinal tract.
In order for a child to be affected by EB-PA, both parents must carry a copy of the mutated gene.
Symptoms
A person with epidermolysis bullosa with pyloric atresia typically presents with the following symptoms at birth or shortly thereafter:
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Blisters form after minimal trauma or friction, affecting large areas of the body.
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It is characterized by a blockage in the pylorus, which prevents food from passing from the stomach to the small intestine, resulting in feeding difficulties, vomiting, and failure to thrive.
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The mouth, esophagus, and other mucosal surfaces can develop blisters, complicating feeding and breathing.
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The nails may be thickened, damaged, or missing.
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In some cases, the condition affects the urinary tract, resulting in symptoms such as hydronephrosis (swelling of the kidneys).
Diagnosis
A combination of clinical evaluation and diagnostic testing is necessary for the diagnosis of epidermolysis bullosa with pyloric atresia:
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It is important to assess the pattern of blistering and look for signs of pyloric atresia, such as vomiting and abdominal distention, during the clinical examination.
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Testing for mutations in the ITGA6, ITGB4, or PLEC genes confirms the diagnosis and helps distinguish EB-PA from other forms of epidermolysis bullosa.
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X-rays or abdominal ultrasounds may be used to diagnose pyloric atresia and assess the severity of gastrointestinal obstruction.
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An examination of the skin structure and confirmation of specific EB-PA abnormalities can be conducted by performing a skin biopsy.
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In some cases, a doctor may use an endoscope to evaluate the degree of obstruction in the pylorus.
Treatment
Symptoms and complications of epidermolysis bullosa with pyloric atresia cannot be cured, but they can be managed.
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To correct the obstruction and allow food to pass through the gastrointestinal tract, infants with pyloric atresia require surgery shortly after birth.
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To minimize trauma to the skin, non-adhesive dressings and gentle skin handling are essential for wound care.
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Due to pyloric atresia and mucosal blistering, affected infants may need specialized feeding techniques such as tube feeding to ensure adequate nutrition.
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Management of pain: Pain relief is often required after blistering or during dressing changes.
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Open blisters and wounds can cause infections that can be treated or prevented with antibiotics.
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The condition should be monitored regularly for urinary and renal complications, as well as nutritional status.
Prevention
As epidermolysis bullosa with pyloric atresia is a genetic disorder, it cannot be prevented once a person is born with the condition. It is recommended, however, that families with a history of the disorder seek genetic counseling. Couples who carry mutated genes may have the option of prenatal genetic testing or preimplantation genetic diagnosis (PGD), which helps them understand how likely they are to pass on the disease to their children.
Conclusion
A life-threatening condition such as epidermolysis bullosa with pyloric atresia requires immediate medical attention and long-term care. A person with pyloric atresia needs to be diagnosed early, surgically corrected, and provided with ongoing skin and nutritional care so that their quality of life can be improved. Family planning decisions can be informed by genetic counseling for families at risk.
