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Article

Blau syndrome with atrophoderma vermiculata-like appearance: a case report.

Frontiers in immunology - 1 Jan 2026

Zheng Jingwei, Sun Jianfang

Abstract excerpt

We report a rare case of Blau syndrome in a 1-year-old boy. The patient presented with characteristic facial manifestations, notably skin lesions exhibiting atrophoderma vermiculates-like appearance; ocular and articular symptoms were notably absent at presentation. Histopathological examination confirmed non-caseating granulomatous inflammatory changes. Whole-genome sequencing (WGS) identified a heterozygous...

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Identifiers

PMID: 41859084
DOI: 10.3389/fimmu.2026.1759464
PMCID: PMC12996038

Genes

NOD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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