美洲原住民新生儿非herlitz型结缔组织大疱性表皮松解症。

IF 1.4 Q2 MEDICINE, GENERAL & INTERNAL Journal of Osteopathic Medicine Pub Date : 2024-12-06 DOI:10.1515/jom-2024-0103
Ayah A Ibrahim, Macken Yrun-Duffy, Rochelle D Almario, Jordyn R Mullins, Scott S Cyrus
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引用次数: 0

摘要

本病例报告详细介绍了一名新生美洲原住民男性非herlitz结缔组织大疱性表皮松解症(JEB)的表现、诊断和治疗,这是一种罕见的诊断,特别是在美洲原住民人群中。遗传分析显示COL17A1基因存在纯合突变。管理涉及多学科护理,并强调了治疗方面的挑战,包括疼痛管理、伤口护理和围绕土著社区收养的伦理考虑。该病例强调了针对性干预的重要性,以及进一步研究美洲原住民大疱性表皮松解症(EB)的遗传多样性和患病率的必要性。
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Non-Herlitz junctional epidermolysis bullosa in a Native American newborn.

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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来源期刊
Journal of Osteopathic Medicine
Journal of Osteopathic Medicine Health Professions-Complementary and Manual Therapy
CiteScore
2.20
自引率
13.30%
发文量
118
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