Pediatric autoinflammatory bone disorders—a mini review with special focus on pathogenesis and inborn errors of immunity

Abstract

Autoinflammatory bone disorders are a group of diseases characterized by sterile osteomyelitis. This includes chronic nonbacterial osteomyelitis and the monogenic forms, Majeed syndrome and deficiency of the interleukin-1 receptor antagonist. These disorders result from innate immune system dysregulation and cytokine imbalance that triggers inflammasome activation causing downstream osteoclastogenesis and excessive bone remodeling. In this review, we will summarize the immunopathogenesis of pediatric autoinflammatory bone diseases with a special focus on the genetics and inborn errors of immunity, while briefly touching on the clinical manifestations and management of each disease as well as areas for future research.

Hyperostosis of the Clavicle as a Cardinal Symptom for Sapho Syndrome – Presentation and Discussion of a Clinical Case

“…For the skeletal region, chronic recurrent multifocal osteomyelitis (CRMO) is the most common manifestation in adolescents and young adults [5]. With increasing detection [19] of sporadic, unifocal, and nonrecurrent disease over the past few years, the term CRMO can be extended to include chronic nonbacterial osteomyelitis (CNO) [20]. The presence of a SAPHO syndrome should be considered when there is recurrent multifocal pain of the musculoskeletal system accompanied by dermatological affections.…”

“…Possibly due to different inflammatory pathways involved, biologics in particular show different effects on bone, joint and skin lesions in SAPHO [20,32], whereby the exact extent of their effect is uncertain [33]. The tumour necrosis factor blockers, JAK inhibitors, and interleukin-1 and -17 inhibitors, which are selected and adapted according to the clinical picture, are of greatest importance [32].…”