Towards the definition of disease phenotypes in paediatric SAPHO syndrome: a national multicentric study.

IF 4.7 2区医学 Q1 RHEUMATOLOGY

Rheumatology Pub Date : 2025-06-01 DOI:10.1093/rheumatology/keaf065

Caterina Matucci-Cerinic, Anna Attico, Clara Malattia, Alessandro Consolaro, Silvia Rosina, Luciana Breda, Saverio La Bella, Marco Cattalini, Francesca Ricci, Giovanni Conti, Adele Civino, Letizia Baldini, Francesco Licciardi, Antonella Insalaco, Francesco La Torre, Serena Pastore, Giovanni Filocamo, Gisella Beatrice Beretta, Francesca Biscaro, Angela Miniaci, Gabriele Simonini, Edoardo Marrani, Angela Pistorio, Nicolino Ruperto, Stefano Volpi, Roberta Caorsi, Gianmaria Viglizzo, Marco Gattorno

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引用次数: 0

Abstract

Objectives: The objective of this study was to confirm the presence of different disease phenotypes of paediatric SAPHO syndrome (pSAPHO) based on their skin manifestations in a large cohort of Italian patients.

Methods: Patients with pSAPHO were enrolled in the Eurofever Registry and the data retrospectively analysed. The patients were categorized according to their skin manifestations into an acne - hidradenitis suppurativa (Acne-HS) group and a palmoplantar pustulosis - psoriasis vulgaris (PPP-PV) group and were compared with patients without skin manifestations (chronic non-bacterial osteomyelitis, CNO). Comparisons of frequencies between groups were performed using the χ2 test or the Fischer's exact test.

Results: A total of 54 pSAPHO patients with skin manifestations (35 Acne-HS, 19 PPP-PV) were enrolled and compared with 167 patients with chronic recurrent multifocal osteomyelitis (CRMO). In the Acne-HS group, 82.9% were males, in the PPP-PV, 84.2% were females, while in the chronic non-bacterial osteomyelitis (CNO) group, no gender differences were observed (P < 0.0001). The three groups differed significantly with respect to age at disease onset: Acne-HS median 13.3 years, PPP-PV median 10.2 years, CNO median 9.5 years (P = 0.0001). An axial pattern was more frequent in the Acne-HS (91.4%) group and the PPP-PV group (89.4%) compared with in the CNO group (46%) (P < 0.0001). Both the Acne-HS (82.9%) and the PPP-PV (63.2%) groups required a biologic therapy more frequently than the CNO group (36.8%), but patients with Acne-HS presented with a refractory skin disease requiring steroids and other lines of treatment, while PPP-PV responded well to biologics.

Conclusion: Our data have identified two different phenotypes of pSAPHO based on skin manifestations, with different age of onset, gender, and response to treatments. These two groups have peculiar clinical features that differ from those of the CNO group. A new classification encompassing these phenotypes is warranted.

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儿童SAPHO综合征疾病表型的定义：一项全国性多中心研究

目的：在一大批意大利患者中，根据儿童SAPHO综合征（pSAPHO）的皮肤表现，证实其不同疾病表型的存在。方法：将pSAPHO纳入欧洲热病登记处，并对数据进行回顾性分析。根据患者的皮肤表现将患者分为化脓性痤疮-汗腺炎（HS）组和掌跖脓疱-寻常性银屑病（PPP-PV）组，并与无皮肤表现的患者（慢性非细菌性骨髓炎，CNO）进行比较。组间频率比较采用χ2检验或Fischer精确检验。结果：纳入54例有皮肤表现的pSAPHO(35例痤疮- hs， 19例PPP-PV)，并与167例CRMO进行比较。Acne-HS组中男性占82.9%，PPP-PV组中女性占84.2%，而CNO组中性别差异无统计学意义（p< 0.0001）。3组的发病年龄差异显著：痤疮- hs的中位年龄为13.3岁，PPP-PV的中位年龄为10.2岁，CNO的中位年龄为9.5岁（p= 0.0001）。与CNO组（46%）相比，痤疮- hs组（91.4%）和PPP-PV组（89.4%）的轴向型更为常见（p< 0.0001）。痤疮- hs（82.9%）和PPP-PV（63.2%）比CNO（36.8%）更频繁地需要生物治疗，但痤疮- hs是一种难治性皮肤病，需要类固醇和不同的治疗方法，而PPP-PV对生物制剂的反应良好。结论：我们的数据已经根据皮肤表现确定了两种不同的pSAPHO表型，具有不同的性别，年龄和对治疗的反应。这两组均有不同于CNO组的特殊临床特征。一种包含这些表型的新分类是必要的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Rheumatology 医学-风湿病学

CiteScore

9.40

自引率

7.30%

发文量

1091

审稿时长

2 months

期刊介绍： Rheumatology strives to support research and discovery by publishing the highest quality original scientific papers with a focus on basic, clinical and translational research. The journal’s subject areas cover a wide range of paediatric and adult rheumatological conditions from an international perspective. It is an official journal of the British Society for Rheumatology, published by Oxford University Press. Rheumatology publishes original articles, reviews, editorials, guidelines, concise reports, meta-analyses, original case reports, clinical vignettes, letters and matters arising from published material. The journal takes pride in serving the global rheumatology community, with a focus on high societal impact in the form of podcasts, videos and extended social media presence, and utilizing metrics such as Altmetric. Keep up to date by following the journal on Twitter @RheumJnl.