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Article

Non-Herlitz junctional epidermolysis bullosa in a Native American newborn.

Journal of osteopathic medicine - 1 Jun 2025

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

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

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

Genes

COL17A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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