The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia

Authors

  • Paul Maurice,

    1. Service de Gynécologie-Obstétrique et Centre Pluridisciplinaire de Diagnostic Prénatal de l’ Est Parisien, Hôpital Armand Trousseau, APHP, Paris, France
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  • Dominique Eyrolle-Guignot,

    1. Service de Gynécologie-Obstétrique, Centre Hospitalier, Papeete, France
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  • Ferdinand Dhombres,

    1. Service de Gynécologie-Obstétrique et Centre Pluridisciplinaire de Diagnostic Prénatal de l’ Est Parisien, Hôpital Armand Trousseau, APHP, Paris, France
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  • Catherine Garel,

    1. Service de Radiopédiatrie, et Centre Pluridisciplinaire de Diagnostic Prénatal de l’ Est Parisien, Hôpital Armand Trousseau, APHP, Paris, France
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  • Marie Gonzales,

    1. Unité de foetopathologie et Centre Pluridisciplinaire de Diagnostic Prénatal de l’ Est Parisien, Hôpital Armand Trousseau, APHP, Paris, France
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  • Françoise Muller,

    1. Service de Biochimie, Hôpital Robert Debré, APHP, Paris, France
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  • Jean-Marie Jouannic

    Corresponding author
    • Service de Gynécologie-Obstétrique et Centre Pluridisciplinaire de Diagnostic Prénatal de l’ Est Parisien, Hôpital Armand Trousseau, APHP, Paris, France
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  • Funding sources: None

  • Conflicts of interest: None declared

Correspondence to: Jean-Marie Jouannic. E-mail: jean-marie.jouannic.aphp@trs.aphp.fr

Abstract

What's already known about this topic?

  • In de novo cases of genodermatoses, direct prenatal ultrasound may lead to a strong suspicion in only very few cases, mainly represented by the most severe form of congenital ichthyosis. For others, including epidermolysis bullosa and disorders of pigmentation, fetal skin lesions are not accessible to prenatal ultrasound examination.

What does this study add?

  • Certain prenatal diagnosis of de novo cases of epidermolysis bullosa is feasible when all biological and clinical patterns are present without the need for histological confirmation.
  • These cardinal signs are represented by (1) unexplained polyhydramnios with high AFP levels in the amniotic fluid (>20 MoM), (2) the presence of an unusual addition slow band on acetylcholinesterase electrophoresis and (3) the presence of a dilated stomach suggestive of pyloric atresia.

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