Clinical characteristics of pediatric synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the first Chinese case series from a single center

Wu, Nan; Shao, Yuming; Huo, Jian-Wei; Zhang, Yanan; Cao, Yihan; Jing, Hongli; Zhang, Fa; Yu, Chuangqi; Yu, Yanying; Li, Chen; Song, Hongmei; Zhang, Wen

doi:10.1007/s10067-020-05393-w

Cited by 14 publications

(20 citation statements)

References 31 publications

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“…Bisphosphonate has shown a favorable treatment response in pediatric SAPHO syndrome. 185 In an observational study, clinical data of 24 adult patients with SAPHO syndrome were analyzed. Out of 17 patients who received the combination treatments of NSAIDs and DMARDs, 15 experienced an improvement in their symptoms.…”

Section: Sapho/crmso/cnomentioning

confidence: 99%

“…TNF-α antagonists have shown a favorable treatment response in pediatric SAPHO syndrome. 185 TNF inhibitors, such as etanercept, adalimumab, infliximab are generally used in SAPHO syndrome after methotrexate failure. 54 Anti-TNF-α agents have shown promising results in SAPHO syndrome 167 , 179 , 185 , 188 and in CRMO/CNO.…”

Section: Sapho/crmso/cnomentioning

confidence: 99%

“… 185 TNF inhibitors, such as etanercept, adalimumab, infliximab are generally used in SAPHO syndrome after methotrexate failure. 54 Anti-TNF-α agents have shown promising results in SAPHO syndrome 167 , 179 , 185 , 188 and in CRMO/CNO. 55 , 172 , 182 , 189 In a case study, tocilizumab was shown to be effective in controlling symptoms and inflammatory markers in adult patients with CRMO/CNO.…”

Section: Sapho/crmso/cnomentioning

confidence: 99%

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New insights on multigenic autoinflammatory diseases

Efthimiou¹,

Petryna

Nakasato

et al. 2022

Therapeutic Advances in Musculoskeletal

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Autoinflammatory diseases are disorders of the innate immune system, which can be either monogenic due to a specific genetic mutation or complex multigenic due to the involvement of multiple genes. The aim of this review is to explore and summarize the recent advances in pathogenesis, diagnosis, and management of genetically complex autoinflammatory diseases, such as Schnitzler’s syndrome; adult-onset Still’s disease; synovitis, acne, pustulosis, hyperostosis, osteitis syndrome/chronic recurrent multifocal osteomyelitis/chronic non-bacterial osteomyelitis; Adamantiades-Behçet’s disease; Yao syndrome; and periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome. The PubMed database was screened for relevant articles using free text words and specific search strings. The search was limited to English-language articles, reporting the results of studies in humans, published through March 2021. Evidence from literature suggest that these rare multigenic autoinflammatory diseases can present with different clinical features and the diagnosis of these diseases can be challenging due to a combination of nonspecific manifestations that can be seen in a variety of other conditions. Diagnostic delays and disease complications may occur due to low disease awareness and the lack of pathognomonic markers. The pathogeneses of these diseases are complex and in some cases precise pathogenesis is not clearly understood. Conventional treatments are commonly used for the management of these conditions, but biologics have shown promising results. Biologics targeting proinflammatory cytokines including IL-1, IL-6, TNF-α, IL-17A and IL-18 have been shown to ameliorate signs and symptoms of different multigenic autoinflammatory diseases.

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Section: Sapho/crmso/cnomentioning

confidence: 99%

Section: Sapho/crmso/cnomentioning

confidence: 99%

Section: Sapho/crmso/cnomentioning

confidence: 99%

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New insights on multigenic autoinflammatory diseases

Efthimiou¹,

Petryna

Nakasato

et al. 2022

Therapeutic Advances in Musculoskeletal

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“…In a Japanese cohort of 165 patients with PAO, a male to female ratio was 1:3.7, and the mean age of patients was 50.2 years [17]. SAPHO cases among children [21,22] and adolescents [23] were also reported.…”

Section: Synovitis Acne Pustulosis Hyperostosis and Osteitis Epidemio...mentioning

confidence: 99%

Pro and contra: is synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) a spondyloarthritis variant?

Furer

Kishimoto

Tomita

et al. 2022

Current Opinion in Rheumatology

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Purpose of reviewThe purpose of this review is to present the up-to-date evidence on the epidemiology, pathogenesis, musculoskeletal manifestations, and imaging of the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome and to discuss its relationship with spondyloarthritis (SpA).Recent findingsSAPHO is a rare inflammatory disorder of bone, joints, and skin, with a worldwide distribution that predominantly affects the middle-age adults. The hallmark of the syndrome is a constellation of sterile inflammatory osteitis, hyperostosis, and synovitis involving the anterior chest wall, associated with acneiform and neutrophilic dermatoses, such as palmoplantar pustulosis and severe acne. The axial skeleton, sacroiliac, and peripheral joints can be involved in a similar fashion to SpA. The pathogenesis of the syndrome is multifactorial. The diagnosis is mainly based on the clinical and typical radiological features. The treatment approach is based on the off-label use of antibiotics, bisphosphonates, disease-modifying antirheumatic drugs, and anticytokine biologics.SummaryThe SAPHO syndrome shares common features with SpA-related diseases, yet also shows some unique pathogenetic and clinical features. The nosology of SAPHO remains a subject of controversy, awaiting further research into the pathogenetic and clinical aspects of this syndrome. A better understanding of these aspects will improve the diagnostics and clinical care of patients with SAPHO.

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“…An alternative name is chronic non-bacterial osteomyelitis (CNO) which has been proposed as an umbrella term as some cases remain unifocal and not all patients have recurrent disease [8,16,17]. When adults present with a similar disease phenotype, the term synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is used [8,[18][19][20][21]. Individuals with CRMO and their close relatives are more likely to have or develop inflammatory bowel disease (most often Crohn disease), psoriasis or inflammatory arthritis suggesting a shared pathogenetic process [10,[22][23][24][25][26][27].…”

Section: Chronic Recurrent Multifocal Osteomyelitis (Crmo)mentioning

confidence: 99%

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

Ferguson

El‐Shanti

2021

Biomolecules

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Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis. The disease is an autosomal recessive disorder caused by mutations in LPIN2, the gene encoding the phosphatidic acid phosphatase LIPIN2. It is exceedingly rare. There are only 24 individuals from 10 families with genetically confirmed Majeed syndrome reported in the literature. The early descriptions of Majeed syndrome reported severely affected children with recurrent fevers, severe multifocal osteomyelitis, failure to thrive, and marked elevations of blood inflammatory markers. As more affected families have been identified, it has become clear that there is significant phenotypic variability. Data supports that disruption of the phosphatidic acid phosphatase activity in LIPIN2 results in immune dysregulation due to aberrant activation of the NLRP3 inflammasome and overproduction of proinflammatory cytokines including IL-1β, however, these findings did not explain the bone phenotype. Recent studies demonstrate that LPIN2 deficiency drives pro-inflammatory M2-macrophages and enhances osteoclastogenesis which suggest a critical role of lipin-2 in controlling homeostasis at the growth plate in an inflammasome-independent manner. While there are no approved medications for Majeed syndrome, pharmacologic blockade of the interleukin-1 pathway has been associated with rapid clinical improvement.

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Clinical characteristics of pediatric synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the first Chinese case series from a single center

Cited by 14 publications

References 31 publications

New insights on multigenic autoinflammatory diseases

New insights on multigenic autoinflammatory diseases

Pro and contra: is synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) a spondyloarthritis variant?

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

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