Diagnostic challenge of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome in pediatric age: A monocentric case series

Maccora, Ilaria; Marrani, Edoardo; Maniscalco, Valerio; Mastrolia, Maria Vincenza; Pagnini, Ilaria; Simonini, Gabriele

doi:10.1080/14397595.2021.1892264

Cited by 3 publications

(5 citation statements)

References 19 publications

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“… 2 26 29 Favourable outcomes were reported in individuals when corticosteroids were given in combination with either adalimumab (psoriasis vulgaris resolution, 1/1), Tripterygium wilfordii Hook F (a traditional Chinese herb with immunosuppressive effects: muscle oedema regression, 4/4; subcutaneous soft tissue swelling regression, 1/1; bone marrow oedema (BMO) regression, 2/4; periosteitis regression, 1/2; temporomandibular joint synovial thickening regression, 3/3) or methotrexate (cortical/medullary lysis on CBCT, 1/1). 5 23 In a small Chinese cohort, corticosteroid monotherapy led to regression of muscle and BMO (both 2/3, 66.7%), subcutaneous soft tissue swelling (1/1) and temporomandibular arthritis (1/1). 23 …”

Section: Resultsmentioning

confidence: 95%

“… 2 5 12 19 26 29 30 The majority of studies, however, reported inadequate effects or incomplete improvement. 5 21 30 Of those studies, reporting efficacy of NSAIDs, most focused on pain reduction. 2 4 6 8 28 One study also reported improved radiological and dermatological features (in addition to pain resolution) in patients treated with a combination of the antimicrobial agent clindamycin and lornoxicam.…”

Section: Resultsmentioning

confidence: 99%

“…Topical corticosteroids were used for dermatological manifestations, with psoriasis vulgaris resolution in one case when taken alongside adalimumab and eosin. 5 Intra-articular corticosteroid injections were reported by four studies. Three studies suggested intra-articular corticosteroids to be effective, providing greater osteoarticular improvement when compared with oral therapy.…”

Section: Resultsmentioning

confidence: 99%

“… 25 30 Similar to CNO/CRMO in the paediatric population, associated autoimmune diseases among the SAPHO patients have been reported. 5 8 44 …”

Section: Introductionmentioning

confidence: 99%

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Treatment and monitoring of SAPHO syndrome: a systematic review

Li,

Roberts,

Hedrich

2023

RMD Open

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Background and objectivesSynovitis acne pustulosis hyperostosis osteitis (SAPHO) is a rare heterogeneous disease of unknown aetiopathology. Externally validated and internationally agreed diagnostic criteria or outcomes and, as a result, prospective randomised controlled trials in SAPHO are absent. Consequently, there is no agreed treatment standard. This study aimed to systematically collate and discuss treatment options in SAPHO.MethodsFollowing ‘Preferred Reporting Items for Systematic Reviews and Meta-Analyses’ guidance, a systematic literature search was conducted using PubMed, Scopus and Web of Science databases. Prospective clinical studies and retrospective case collections discussing management and outcomes in SAPHO involving five or more participants were included. Articles not published in English, studies not reporting defined outcomes, and studies solely relying on patient-reported outcomes were excluded.ResultsA total of 28 studies (20 observational, 8 open-label clinical studies) reporting 796 patients of predominantly European ethnicity were included. Reported therapies varied greatly, with many centres using multiple treatments in parallel. Most patients (37.1%) received non-steroidal anti-inflammatory drugs alone or in combination. Bisphosphonates (22.1%), conventional (21.7%) and biological (11.3%) disease-modifying antirheumatic drugs were the next most frequently reported treatments. Reported outcomes varied and delivered mixed results, which complicates comparisons. Bisphosphonates demonstrated the most consistent improvement of osteoarticular symptoms and were associated with transient influenza-like symptoms. Paradoxical skin reactions were reported in patients treated with TNF inhibitors, but no serious adverse events were recorded. Most treatments had limited or mixed effects on cutaneous involvement. A recent study investigating the Janus kinase inhibitor tofacitinib delivered promising results in relation to skin and nail involvement.ConclusionsNo single currently available treatment option sufficiently addresses all SAPHO-associated symptoms. Variable, sometimes descriptive outcomes and the use of treatment combinations complicate conclusions and treatment recommendations. Randomised clinical trials are necessary to generate reliable evidence.

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Section: Resultsmentioning

confidence: 95%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“… 25 30 Similar to CNO/CRMO in the paediatric population, associated autoimmune diseases among the SAPHO patients have been reported. 5 8 44 …”

Section: Introductionmentioning

confidence: 99%

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Treatment and monitoring of SAPHO syndrome: a systematic review

Li,

Roberts,

Hedrich

2023

RMD Open

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“…An additional 42 articles were excluded following full-text review, resulting in 57 articles (Figure). Of these, 53 articles reported individual clinical data from 64 patients. The remaining 4 articles only provided grouped data rather than individual patient data, so these studies were omitted when calculating the following summary statistics.…”

Section: Resultsmentioning

confidence: 99%

Role of Tumor Necrosis Factor–α Inhibitors in the Treatment and Occurrence of Acne

et al. 2023

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ImportanceTumor necrosis factor–α inhibitors (TNFis) approved to treat several inflammatory diseases are sometimes used off label to treat severe forms of acne that are refractory to conventional therapies. However, use of TNFis can also be followed by acne occurrence, suggesting an association between TNFis and acne. Most of the literature on the topic comprises case reports and series that have not been reviewed in a systematic manner.ObjectiveTo characterize the demographic characteristics, clinical presentations, treatments, and outcomes of patients receiving TNFis to treat acne and patients who develop acne following treatment of other conditions with TNFis.Evidence ReviewA systematic literature review was performed and reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses reporting guidelines. PubMed and Web of Science were searched from inception through October 17, 2022. Included studies reported on patients of any sex or age who received TNFis whose treatment was followed by resolution or occurrence of acne. Two independent reviewers screened studies based on predefined criteria and extracted data from each study, which were quantitatively combined.FindingsA total of 53 studies reporting on 64 patients who received TNFis for the treatment of acne (n = 47) or who experienced acne after treatment with TNFis for a different condition (n = 17) (mean age, 28.7 years; range, 12-64 years; 6 female individuals [8.8%]) were included. The TNFis used included adalimumab, infliximab, and etanercept. Among the 47 patients treated for acne with TNFis, most had previously received antibiotics (31 [66.0%]) or isotretinoin (32 [68.1%]). Most (44 [93.6%]) experienced partial improvement (25 [53.2%]) or clearance (19 [40.4%]) with very few adverse effects reported (3 [6.4%]). Acne manifested as part of an inflammatory syndrome for 30 patients (63.8%). Among the 17 patients treated TNFis for a different condition followed by the occurrence of acne, only 1 patient (5.9%) reported having a history of acne. Therapy with TNFis was either discontinued (8 [47.1%]) or altered (6 [35.3%]) in most patients due to acne occurrence, typically with improvement in symptoms.Conclusions and RelevanceThe results of this systematic review suggest that TNFis can be effective in treating refractory acne but can also be associated with the occurrence of acne in certain instances. Further studies elucidating the role that TNF plays in treating and inducing acne could yield insight into off-label TNFi use and acne pathogenesis, potentially guiding clinical care of patients with acne treated or induced by TNFis.

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An improved understanding of pediatric chronic nonbacterial osteomyelitis pathophysiology informs current and future treatment

Roberts,

Charras,

Hahn

et al. 2024

Journal of Bone and Mineral Research

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Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease that primarily affects children and young people. It can cause significant pain, reduced function, bone swelling, and even (vertebral body) fractures. Because of a limited understanding of its pathophysiology, the treatment of CNO remains empiric and is based on relatively small case series, expert opinion, and personal experience. Several studies have linked pathological NOD-kike receptor (NLR) family pyrin domain containing 3 (NLRP3) inflammasome activation and the resulting imbalance between pro- and anti-inflammatory cytokine expression with CNO. This agrees with elevated pro-inflammatory (mostly) monocyte-derived protein signatures in the blood of CNO patients that may be used as future diagnostic and/or prognostic biomarkers. Recently, rare variants in the P2RX7 gene, encoding for an ATP-dependent transmembrane channel, were linked with increased NLRP3 inflammasome assembly and prolonged monocyte/macrophage survival in CNO. Although the exact molecular mechanisms remain unclear, this will inform future target-directed and individualized treatment. This manuscript reviews most recent developments and their impact on diagnostic and therapeutic strategies in CNO.

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Diagnostic challenge of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome in pediatric age: A monocentric case series

Cited by 3 publications

References 19 publications

Treatment and monitoring of SAPHO syndrome: a systematic review

Treatment and monitoring of SAPHO syndrome: a systematic review

Role of Tumor Necrosis Factor–α Inhibitors in the Treatment and Occurrence of Acne

An improved understanding of pediatric chronic nonbacterial osteomyelitis pathophysiology informs current and future treatment

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