Article Text

  1. A Berenguer1,
  2. B Pereira2,
  3. R Gonçalves1,
  4. F Teixeira3,
  5. C Pilar4,
  6. FP Gomes4,
  7. JL Nunes3,
  8. A Afonso5,
  9. A Matos6,
  10. A Cavaco1
  1. 1Department of Pediatrics, Hospital Central Funchal, Madeira, Portugal
  2. 2Department of Dermatology, Hospital Central Funchal, Madeira, Portugal
  3. 3Pediatric and Neonatal Intensive Care Unit, Madeira, Portugal
  4. 4Department of Pediatric Surgery, Hospital Central Funchal, Madeira, Portugal
  5. 5Department of Dermatology, Hospital Curry Cabral, Lisbon, Portugal
  6. 6Department of Pathology, Hospital Curry Cabral, Lisbon, Portugal


Epidermolysis bullosa (EB) comprises a heterogeneous group of cutaneous genetic diseases that lead to spontaneous or post-traumatic formation of blisters. Three main types are recognized depending on the precise ultrastructural level at which the split responsible for blistering occurs.

Pyloric atresia (PA) is a rare cause of bowel obstruction. All 3 types of EB have been reported in association with pyloric atresia, although junctional EB is most frequently reported.

Gastric outlet obstruction in the newborn is a rare clinical problem. Most of the time it is due to atresia of the pylorus or prepyloric region. Simultaneous atresia of both areas are very rare, and only two cases have been reported earlier.

Case report Premature female infant was delivered at 33 weeks' gestation and weighed 2.3 kg. The pregnancy was complicated by potyhydramnios. There was no consanguinity or family history of bullous disease. On D1 of life, bullae appeared on the skin and oral mucous membranes spontaneously and subsequent to minimal trauma. On day 3 revealed upper abdominal distention. Abdominal x-ray showed a single gas bubble. A clinical diagnosis of PA-EB was made and standard preoperative management initiated. Laparotomy done on day 4 showed distended stomach with pyloric atresia. After pyloromyotomy, diaphragm on pyloric and prepyloric region was noted making the diagnosis of double outlet gastric obstruction. A gastroduodenostomy was performed. Postoperative period was uneventful. Skin biopsy revealed junctional epidermolysis bullosa. At present she is 12 months old with severely compromised nutritional absorption leading to prolonged malnutrition and extreme growth failure.

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