ArticleFrontiers in immunology2026
Blau syndrome with atrophoderma vermiculata-like appearance: a case report.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 pathogenic mutation (p. Arg307Trp) in the nucleotide oligomerization domain 2 (NOD2) gene. Treatment with oral prednisone combined with topical vitamin E application resulted in a significant improvement of his skin lesions.
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