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Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa

Journal of Perinatology volume 27, pages 307–311 (2007)Cite this article

Abstract

The Herlitz subtype of junctional epidermolysis bullosa (JEB-H) is a lethal genetic disorder characterized by recurrent and persistent erosions of the epithelial surfaces that heal with exuberant granulation tissue. In addition, respiratory distress, refractory anemia and failure to thrive are often seen. Mortality in the first year of life approaches 90%. JEB-H is caused by mutations in the genes that encode the protein laminin 5, a structural molecule involved in the adhesion of epidermis to dermis. There is currently no cure for JEB-H. Medical interventions treat complications but do not ultimately limit mortality. Ethical principles contend that offering comfort and company to the patient and family, not aggressive therapies, should comprise the mainstay of care for affected infants.

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Authors and Affiliations

  1. University of California San Francisco School of Medicine, San Francisco, CA, USA

    E G Yan

  2. Department of Theology, Boston College, Stanford University School of Medicine, Chestnut Hill, MA, USA

    J J Paris

  3. Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA

    J J Paris, A T Lane & A L Bruckner

  4. Department of Pediatrics, Addenbrooks Hospital, Cambridge University Hospitals, Cambridge, UK

    J Ahluwalia

  5. Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA

    A T Lane & A L Bruckner

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  1. E G Yan
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  2. J J Paris
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  4. A T Lane
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  5. A L Bruckner
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Corresponding author

Correspondence to A L Bruckner.

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Yan, E., Paris, J., Ahluwalia, J. et al. Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. J Perinatol 27, 307–311 (2007). https://doi.org/10.1038/sj.jp.7211694

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