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

## TL;DR

A 1-year-old boy with Blau syndrome showed skin lesions resembling atrophoderma vermiculata, and treatment with prednisone and vitamin E improved his condition.

## Contribution

This case report highlights a rare presentation of Blau syndrome with atrophoderma vermiculata-like skin lesions.

## Key findings

- The patient exhibited characteristic facial features and skin lesions but lacked ocular and articular symptoms.
- Whole-genome sequencing identified a pathogenic NOD2 gene mutation (p.Arg307Trp).
- Treatment with prednisone and vitamin E significantly improved the skin lesions.

## 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.