PediatricsCASE REPORT

Non-Herlitz junctional epidermolysis bullosa in a Native American newborn

Ayah A. Ibrahim, BS; Macken Yrun-Duffy, DO; Rochelle D. Almario, DO; Jordyn R. Mullins, BS, BA; and Scott S. Cyrus, DO
Notes and Affiliations
Notes and Affiliations

Received: May 20, 2024

Accepted: November 22, 2024

Published: December 6, 2024

  • Ayah A. Ibrahim, BS, 

    448838
    Burrell College of Osteopathic Medicine
    , Las Cruces, NM, USA

  • Macken Yrun-Duffy, DO, 

    University of Arizona, Tucson, AZ, USA

  • Rochelle D. Almario, DO, 

    University of Arizona, Tucson, AZ, USA

  • Jordyn R. Mullins, BS, BA, 

    448838
    Burrell College of Osteopathic Medicine
    , Las Cruces, NM, USA

  • Scott S. Cyrus, DO, 

    University of Arizona, Tucson, AZ, USA

Abstract

This case report details the presentation, diagnosis, and management of a newborn Native American male with non-Herlitz junctional epidermolysis bullosa (JEB), a rare diagnosis specifically in the Native American population. Genetic analysis revealed a homozygous mutation in the COL17A1 gene. The management involved multidisciplinary care and highlighted the challenges in treatment, including pain management, wound care, and ethical considerations surrounding adoption within Indigenous communities. This case highlights the importance of tailored interventions and the need for further research into the genetic diversity and prevalence of epidermolysis bullosa (EB) among the Native American population.

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