• BMJ case reports · Jan 2013

    Case Reports

    Epidermolysis bullosa and congenital pyloric atresia.

    • Anwar Adil Mithwani, Asif Hashmi, and Salman Adil.
    • Department of Pediatrics, Armed Forces Hospital, Jubail, Saudi Arabia.
    • BMJ Case Rep. 2013 Jan 1;2013.

    AbstractThe 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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