Work

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

Year: 2026

Type: article

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.

Source: Frontiers in Immunology

DOI: 10.3389/fimmu.2026.1759464

Authors: Jingwei Zheng, Jianfang Sun

Institution: Chinese Academy of Medical Sciences & Peking Union Medical College

Language: English

Topic: Sarcoidosis and Beryllium Toxicity Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801