Journal of Osteopathic Medicine, 2025/06, 125(6):315–319. doi: 10.1515/jom-2024-0103, type of study: case report

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Keywords:

blistering [1]
case report [738]
epidermolysis bullosa [1]
indigenous communities [1]
Native American [4]
newborn [77]
pediatrics [573]
skin fragility [1]

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.