# Pulmonary granulomas confirmed in Blau syndrome using TBLC specimens: Case report

**Authors:** Yasuo Shimizu, Yoshitomo Kushima, Ayae Tanaka, Akihiro Takemasa, Kazuyuki Ishida, Seiji Niho

PMC · DOI: 10.3389/fmed.2024.1380236 · Frontiers in Medicine · 2024-06-12

## TL;DR

Blau syndrome can involve lung granulomas, which are rare in similar diseases, and early diagnosis is important for better management.

## Contribution

This case report confirms pulmonary granulomas in Blau syndrome using transbronchial lung cryobiopsy specimens.

## Key findings

- Granulomas in Blau syndrome show a distinct morphology linked to chronic inflammation.
- Lung involvement in Blau syndrome may require early diagnosis for effective treatment.
- Transbronchial lung cryobiopsy can help confirm lung lesions in Blau syndrome cases.

## Abstract

Blau syndrome (BS), is an autoinflammatory granulomatosis disease characterized by a distinct triad of skin, joint, and eye disorders similar to those of sarcoidosis, but the lung involvement frequently observed in sarcoidosis are rare. Granulomas from patients with BS displayed a distinct morphology indicating an exuberant chronic inflammatory response. Patients with BS may have granulomatous lung lesions, which require early diagnosis. To determine whether therapeutic intervention is needed for lung lesions, examining transbronchial lung cryobiopsy specimens and accumulating cases of BS with lung involvement could be contributed to improving BS management in the future.

## Linked entities

- **Diseases:** Blau syndrome (MONDO:0008523), sarcoidosis (MONDO:0008399)

## Full-text entities

- **Diseases:** autoinflammatory granulomatosis disease (MESH:D056660), skin, joint, and eye disorders (MESH:D005128), sarcoidosis (MESH:D012507), Granulomas (MESH:D006099), granulomatous lung lesions (MESH:D008171), BS (MESH:C538157), inflammatory (MESH:D007249)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11199689/full.md

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11199689/full.md

## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC11199689/full.md

---
Source: https://tomesphere.com/paper/PMC11199689