Severe tenosynovitis with rapidly fluctuating power Doppler activity, a clue for the diagnosis of Blau syndrome: a case report
The diagnosis was suspected based on severe tenosynovitis of wrists and ankles with power doppler signal fluctuation, despite the absence of other typical Blau Syndrome symptoms. High cytokines levels were observed, which normalized after treatment. Transcriptomic analysis revealed an increased expression of genes related to cellular stress and induction of the TNF pathway.
Authors
- Nunzia Zanotta (ORCID: https://orcid.org/0000-0002-6458-1946)
- Eleonora De Martino (ORCID: https://orcid.org/0000-0003-0733-7231)
- Erica Valencic (ORCID: https://orcid.org/0000-0002-7380-8014)
- Irene Bruno (ORCID: https://orcid.org/0000-0002-2437-6198)
- Andrea Taddio (ORCID: https://orcid.org/0000-0001-6817-4953)
- Alessia Pin (ORCID: https://orcid.org/0000-0002-0145-1976)
- Alberto Tommasini (ORCID: https://orcid.org/0000-0002-6943-7927)
- Serena Pastore (ORCID: https://orcid.org/0000-0003-4697-0777)
- Carolina Carraro (ORCID: https://orcid.org/0000-0003-0020-8875)
Institutions
- University of Trieste (IT)
- IRCCS Materno Infantile Burlo Garofolo (IT)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-08-13
- DOI
- https://doi.org/10.3389/fped.2025.1662832
- Primary Topic
- Sarcoidosis and Beryllium Toxicity Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00