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Congenital pyloric atresia, type B; with junctional epidermolysis bullosa

Journal of Perinatology volume 34, pages 572–573 (2014)Cite this article

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The patient was taken to the operating room for an exploratory laparotomy. The stomach was found to be dilated, and the pylorus was thickened. A gastrotomy was created through which the pylorus was found to consist of a fibrous cord consistent with pyloric atresia type B. The fibrous cord was then resected, and a gastroduodenostomy was performed. Subsequently, a skin biopsy was performed by dermatology which confirmed the diagnosis of junctional epidermolysis bullosa.

CPA accounts for less than 1% of all bowel atresia. Its incidence is ∼1 in 100 000 live births.1, 2, 3, 4, 5, 6 There are three anatomic varieties of pyloric atresia: type A is a membrane or web, type B is a solid cord, as present in this case, and type C is a gap with complete disconnection between the stomach and duodenum. CPA as an isolated entity is probably a familial autosomal recessive condition. In ∼50% of cases, it is associated with other syndromes.5, 6 The most commonly associated condition is the autosomal recessive epidermolysis bullosa (EB) occurring occasionally with aplasia cutis congenita (ACA).7 The distinctive occurrence of CPA-EB and/or ACA is most common in certain ethnic groups—middle-eastern Lebanese, Turks, and American Indians.5, 6 Less frequently, CPA occurs with hereditary multiple intestinal atresia syndrome, a rare usual lethal autosomal recessive condition which occurs most frequently in families in northern Quebec.8

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References

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Acknowledgements

We acknowledge our recently deceased colleague, Dr Atchawee Luisiri of Cardinal Glennon Hospital for Children in St Louis who, prior to her death, helped in the initial preparation of this paper.

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  1. Mallinckrodt Institute of Radiology, St Louis Children’s Hospital, Washington University School of Medicine, St Louis, MO, USA

    S G Farmakis, T E Herman & M J Siegel

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  1. S G Farmakis
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  2. T E Herman
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  3. M J Siegel
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Correspondence to T E Herman.

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Farmakis, S., Herman, T. & Siegel, M. Congenital pyloric atresia, type B; with junctional epidermolysis bullosa. J Perinatol 34, 572–573 (2014). https://doi.org/10.1038/jp.2014.7

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