CASE REPORT article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Blau Syndrome with Atrophoderma Vermiculata -like Appearance: a case report
Jingwei Zheng
Jianfang Sun
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China
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Abstract
Abstract: We report a rare case of Blau syndrome in a one-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 significant improvement of his skin lesions.
Summary
Keywords
atrophoderma vermiculates (AV), Blau syndrome (BS), Granulomatous inflammation, nucleotide oligomerization domain 2 (NOD2), Whole-genome sequencing
Received
03 December 2025
Accepted
17 February 2026
Copyright
© 2026 Zheng and Sun. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Jianfang Sun
Disclaimer
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