Pediatric Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) Syndrome: Diagnostic Challenges and Treatment Approach

Abstract

Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome is a rare disease; however, more and more case reports have been published that increase the awareness of this disorder, especially in children. Clinically it presents as a combination of chronic recurrent multifocal osteomyelitis symptoms and skin manifestations. SAPHO treatment remains a challenge. In most cases, non-steroidal anti-inflammatory drugs are initially used, although a combination with other drugs is preferred. In addition, antibiotics, corticosteroids, bisphosphonates, and disease-modifying anti-rheumatic drugs are usually administered with varied success. There are also promising results from novel biological therapy. This paper emphasizes some non-specific symptoms of the disease, in order to increase the suspicion of SAPHO in all pediatric clinical doctors. We present the case of a 13-year-old boy with severe acne, who was admitted to our hospital due to fever of unknown origin, accompanied by arthralgia of the right ankle and left knee.

SAPHO syndrome associated with a digestive disorder in a ten-year-old girl: Diagnostic difficulties

“…Bone manifestations are the cornerstone of the diagnosis. They are axial in adults and peripheral multifocal in children with classic CMRO (chronic multifocal recurrent osteomyelitis) [4,[8][9][10][11]. The dermatologic component may precede the first signs of rheumatism by years or, on the contrary, may occur extremely late [3,4,12].…”

“…The pathogenesis of these two diseases remains poorly understood. Three theories have been suggested regarding SAPHO syndrome: the genetic theory suspected in view of the presence of familial forms, certain HLA histocompatibility genes (HLA-A26, HLA-B27, HLA-B39, HLA-B61) and other predisposition genes located on chromosomes 1 and 18 [1,2,9,12,[18][19][20]; the infectious or post-infectious theory incriminating Cutibacterium acnes found in 67% of bone biopsy samples [14,19]; the immunologic theory based on the evidence of a significant secretion of various pro-inflammatory cytokines and TNF-alpha [1,2,4].…”

“…The efficacy of anti-inflammatory drugs, sulfonamides, analgesics, immunosuppressants, and antibiotics previously used is inconsistent [1,4,25,26]. Therapeutic perspectives aim at the use of bisphosphonates, especially in children, and anti-TNF biotherapies [9,11,[27][28][29] with apparent efficacy and good tolerance.…”

Clinical and imaging features of six Han patients with SAPHO syndrome

“…Some patients with SAPHO syndrome have been shown to be associated with the existence of HLA-B27, suggesting a genetic predisposition (18). Other genetic studies have found that single nucleotide polymorphisms or copy number variations of NOD2 , LPIN2 , and PSTPIP2 genes seem to be related to the development of SAPHO syndrome (19,20). NOD2 gene mutation may lead to abnormal immune response to bacterial peptidoglycan by activating pro-inflammatory transcription factor nuclear factor-κB (11).…”

Sternoclavicular Septic Arthritis Caused by Cutibacterium acnes in a Previously Healthy 13-Year-Old Male

“…Thus, it is important to keep this rare inflammatory disorder on the differential. Although there are no validated diagnostic criteria for SAPHO syndrome and inflammatory markers are often unhelpful, the diagnosis typically requires osteoarticular and dermatological manifestation combined with protracted symptoms over months to years that often improve with anti-inflammatories but then recur 10 . Bony and skin lesions, however, may not be present at the same time, and a thorough history and physical examination are necessary to aid in the diagnosis.…”