Review article

https://doi.org/10.21860/medflum2026_346493

Autoinflammatory Bone Disorders: Diagnosis and Treatment

Filip Horvatiček ; Specijalna bolnica za medicinsku rehabilitaciju Stubičke Toplice, Stubičke Toplice, Hrvatska
Ivan Ljudevit Caktaš ; Klinički bolnički centar Zagreb, Klinika za reumatske bolesti i rehabilitaciju, Zagreb, Hrvatska
Doroteja Caktaš ; Klinička bolnica Dubrava, Zagreb, Hrvatska
Porin Perić ; Klinički bolnički centar Zagreb, Klinika za reumatske bolesti i rehabilitaciju, Zagreb, Hrvatska; Medicinski fakultet Sveučilišta u Zagrebu, Zagreb, Hrvatska *

* Corresponding author.

Abstract

Autoinflammatory bone disorders are rare, and their main feature is sterile bone inflammation accompanied by skin pathology. They encompass various syndromes: synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO syndrome), chronic recurrent multifocal osteomyelitis (CRMO), chronic nonbacterial osteomyelitis (CNO), Majeed syndrome, deficiency of interleukin-1 receptor antagonist (DIRA syndrome), pyogenic arthritis, pyoderma gangrenosum, acne (PAPA syndrome) and cherubism. Syndromes often affect multiple organ systems and overlap with other diseases, so they often remain unrecognized. Early diagnosis requires unambiguous definition of diagnostic criteria. Nonsteroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, disease-modifying antirheumatic drugs (DMARD) and biological drugs are used in treatment, and more recently, interleukin 17 and 23 inhibitors. Diagnostic criteria have been proposed for SAPHO syndrome, CRMO and CNO. In addition, a six-stage grading system has been developed for cherubism, based on the extent of involvement and the complexity of the clinical presentation. Clearly defined diagnostic criteria have not been proposed in the cases of Majeed, DIRA and PAPA syndromes. Guidelines for the introduction of pharmacotherapy have not been established yet, however, treatment protocols are based on general recommendations. In more severe forms of cherubism, surgical procedures are utilised to reduce the risk of more serious complications. Further researches are required to evaluate the effectiveness of particular medications in the treatment of autoinflammatory bone diseases.

Keywords

acne vulgaris; acquired hyperostosis syndrome; cherubism; hereditary autoinflammatory diseases; osteomyelitis; synovitis

Hrčak ID:

346493

URI

https://hrcak.srce.hr/346493

Publication date:

1.6.2026.

Article data in other languages: croatian

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