Blau syndrome with atrophoderma vermiculata-like appearance: a case report
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.
Fields of Study & Subjects
Sarcoidosis and Beryllium Toxicity Research
Autoimmune and Inflammatory Disorders
Histiocytic Disorders and Treatments
Publication details
- Journal / source
- Frontiers in Immunology
- Volume
- 17
- Pages
- 1759464–1759464
- Publication date
- 4 March 2026
- Language
- EN