Non-Herlitz junctional epidermolysis bullosa in a Native American newborn

Ayah A Ibrahim; Macken Yrun-Duffy; Rochelle D Almario; Jordyn R Mullins; Scott S Cyrus

doi:10.1515/jom-2024-0103

Non-Herlitz junctional epidermolysis bullosa in a Native American newborn

J Osteopath Med. 2024 Dec 6. doi: 10.1515/jom-2024-0103. Online ahead of print.

Authors

Ayah A Ibrahim¹, Macken Yrun-Duffy^{1

2}, Rochelle D Almario^{1

2}, Jordyn R Mullins¹, Scott S Cyrus^{1

2}

Affiliations

¹ 448838 Burrell College of Osteopathic Medicine , Las Cruces, NM, USA.
² University of Arizona, Tucson, AZ, USA.

PMID: 39636096
DOI: 10.1515/jom-2024-0103

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.

Keywords: COL17A1 mutation; collagen type XVII alpha-1 chain; indigenous communities; native American newborn; non-Herlitz junctional epidermolysis bullosa.

Publication types

Case Reports