Ibrahim Ayah A, Yrun-Duffy Macken, Almario Rochelle D, Mullins Jordyn R, Cyrus Scott S
448838 Burrell College of Osteopathic Medicine , Las Cruces, NM, USA.
University of Arizona, Tucson, AZ, USA.
J Osteopath Med. 2024 Dec 6;125(6):315-319. doi: 10.1515/jom-2024-0103. eCollection 2025 Jun 1.
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.
本病例报告详细介绍了一名患有非赫利茨交界性大疱性表皮松解症(JEB)的美洲原住民新生儿男性的临床表现、诊断和治疗情况,这一诊断在美洲原住民群体中尤为罕见。基因分析显示COL17A1基因存在纯合突变。治疗涉及多学科护理,并突出了治疗中的挑战,包括疼痛管理、伤口护理以及围绕原住民社区收养的伦理考量。本病例强调了量身定制干预措施的重要性,以及对美洲原住民群体中大疱性表皮松解症(EB)的遗传多样性和患病率进行进一步研究的必要性。