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Epidermolysis bullosa and congenital pyloric atresia
  1. Anwar Adil Mithwani1,
  2. Asif Hashmi2,
  3. Salman Adil3
  1. 1Department of Pediatrics, Armed Forces Hospital, Jubail, Saudi Arabia
  2. 2Department of Medicine, Armed Forces Hospital, Jubail, Saudi Arabia
  3. 3Department of Dentistry, Armed Forces Hospital, Jubail, Saudi Arabia
  1. Correspondence to Dr Anwar Adil Mithwani, dmithwani{at}


The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, well-demarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida.

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