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Children
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State of the Art and Recent Advances in Pediatric Rheumatology
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State of the Art and Recent Advances in Pediatric Rheumatology

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Allergy and Immunology".

Deadline for manuscript submissions: closed (15 September 2023) | Viewed by 8056

Special Issue Editors

Dr. Achille Marino

E-Mail Website
Guest Editor
Pediatric Rheumatology Unit, ASST G. Pini & CTO, Milan, Italy
Interests: juvenile idiopathic arthritis; uveitis; autoinflammatory diseases; chronic non-bacterial osteomyelitis
Dr. Cecilia Chighizola

E-Mail Website
Guest Editor
1. Department of Clinical Sciences and Community Health, Research Center for Adult and Pediatric Rheumatic Diseases, University of Milan, Milan, Italy
2. Pediatric Rheumatology Unit, ASST G. Pini & CTO, Milan, Italy
Interests: juvenile idiopathic arthritis; juvenile systemic lupus erythematosus; anti-phospholipid antibodies; connective tissue disease; transition

Special Issue Information

Dear colleagues,

The study of childhood-onset rheumatic diseases involves several medical fields: general pediatrics, immunology, genetics, orthopedics, dermatology, gastroenterology, neurology, and adult rheumatology, to name some of them. Pediatric rheumatology is expanding thanks to the increasing knowledge on inflammation and immunological pathways. New therapeutic options for diseases such as juvenile idiopathic arthritis (JIA), juvenile systemic lupus erythematosus (SLE), and other connective tissue diseases are emerging. The recent discovery of inborn errors of the innate immune system defining new monogenic illnesses, the so-called autoinflammatory disorders, has widened the field of pediatric rheumatology further. Nowadays, this concept has been broadened to genetically complex conditions, such as systemic-onset juvenile idiopathic arthritis (SoJIA), Behçet’s disease, and the syndrome of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). Long-lasting treatments of childhood-onset rheumatologic conditions might result in several consequences, many of which still need to be clarified.

The present Special Issue aims to explore the current knowledge on and advances in pediatric rheumatology.

Dr. Achille Marino
Dr. Cecilia Chighizola
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric rheumatology
  • juvenile idiopathic arthritis
  • systemic lupus erythematosus
  • Behçet’s disease
  • autoinflammatory diseases
  • non-infectious uveitis
  • chronic non-bacterial osteomyelitis
  • anti-phospholipid syndrome

Published Papers (4 papers)

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Research

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13 pages, 5030 KiB  
Article
Intra- and Juxta-Articular Osteoid Osteoma Mimicking Arthritis: Case Series and Literature Review
by Adele Civino, Federico Diomeda, Luca Giordano, Maria Beatrice Damasio, Sandra Perrone, Romina Gallizzi, Angelo Ravelli, Prisco Piscitelli and Maria Cristina Maggio
Children 2023, 10(5), 829; https://doi.org/10.3390/children10050829 - 2 May 2023
Cited by 1 | Viewed by 1525
Abstract
Background: Intra- and juxta-articular osteoid osteomas are rare, representing less than 10% of all osteomas. Compared to the classic diaphyseal or metaphyseal site of long bones, they often have an atypical onset, a longest diagnostic delay, and frequent initial misdiagnoses, with pictures that [...] Read more.
Background: Intra- and juxta-articular osteoid osteomas are rare, representing less than 10% of all osteomas. Compared to the classic diaphyseal or metaphyseal site of long bones, they often have an atypical onset, a longest diagnostic delay, and frequent initial misdiagnoses, with pictures that can mimic inflammatory monoarthritis. We aimed to describe a case series, and to provide a literature review of this uncommon and misleading tumor location. Methods: We performed a retrospective analysis of patients referred to three pediatric rheumatology centers, with a final diagnosis of articular osteoid osteoma. A review of the literature was additionally conducted. Results: We included 10 patients with a mean age of 14 years. All patients with unusual sites (olecranon fossa, lumbar vertebra, distal phalanx of the toe, fibula) had a misdiagnosis, and cases with initial suspicion of monoarthritis had the longest diagnostic delay, up to 24 months. The literature review confirms the significant risk of misdiagnosis, and an average time from symptom onset to diagnosis ranging from 0.4 to 1.8 years. Conclusions: Articular osteoid osteoma may mimic arthritis, especially in adolescence. Knowledge of the atypical forms of presentation, and of the clinical and radiological pitfalls, reduces the risk of diagnostic error. Full article
(This article belongs to the Special Issue State of the Art and Recent Advances in Pediatric Rheumatology)
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Review

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12 pages, 308 KiB  
Review
Chronic Nonbacterial Osteomyelitis and Inflammatory Bowel Disease: A Literature Review-Based Cohort
by Stefania Costi, Sabino Germinario, Marco Pandolfi, Maria Rosa Pellico, Andrea Amati, Maurizio Gattinara, Cecilia Beatrice Chighizola, Roberto Caporali and Achille Marino
Children 2023, 10(3), 502; https://doi.org/10.3390/children10030502 - 3 Mar 2023
Cited by 2 | Viewed by 1705
Abstract
Background: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder that mainly involves children and adolescents. The association with other inflammatory disorders, such as inflammatory bowel disease (IBD), psoriasis, and arthritis, has been reported in the literature. In particular, the relationship between [...] Read more.
Background: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder that mainly involves children and adolescents. The association with other inflammatory disorders, such as inflammatory bowel disease (IBD), psoriasis, and arthritis, has been reported in the literature. In particular, the relationship between bone and intestinal inflammation is still poorly understood. For this purpose, our review aims to describe the cases reported in the literature concerning this association and to compare them with data from our single-center cohort of patients. Methods: We conducted a literature review of published cases of CNO associated with IBD. Eligible articles were identified through a Medline search in the PubMed database until December 2022. We retrospectively reviewed medical records of patients with CNO referred to G. Pini Hospital and compared them with the literature-review-based cohort. Results: Fifty-seven patients with a defined diagnosis of CNO and associated IBD were described in the literature (female 55%). The median age of onset of the disease (CNO or IBD) was 11 years. In 32/53 (60%), a diagnosis of Crohn’s disease (CD) was made, while 18 (34%) patients were classified as suffering from ulcerative colitis (UC) and 3 (6%) from undifferentiated IBD. The diagnosis of CNO preceded the diagnosis of IBD in 59% of cases; while in 24%, IBD anticipated CNO; and in 17%, the two conditions appeared simultaneously. The median time between the two events was 24 months. In our Italian cohort (n = 23 patients), no diagnosis of IBD was made. No significant differences were found when comparing clinical and demographical characteristics of the Italian vs. review-based cohort, except for a significant involvement of rachis in the Italian group. Conclusions: The correlation between autoinflammatory bone disease and intestinal inflammation should be further investigated. It is essential to promote awareness among pediatric rheumatologists and gastroenterologists about this possible association to facilitate the diagnosis and better optimize treatment. Full article
(This article belongs to the Special Issue State of the Art and Recent Advances in Pediatric Rheumatology)
12 pages, 665 KiB  
Review
Tocilizumab in Juvenile Idiopathic Arthritis Associated Uveitis, a Narrative Review
by Claudia Iannone, Luca Marelli, Stefania Costi, Maria Rosa Pellico, Lamberto La Franca, Roberto Caporali and Elisabetta Miserocchi
Children 2023, 10(3), 434; https://doi.org/10.3390/children10030434 - 23 Feb 2023
Cited by 4 | Viewed by 2810
Abstract
Juvenile idiopathic arthritis (JIA) associated uveitis (JIA-U) is the most common extra-articular manifestation of JIA, affecting 10–15% of patients, especially in oligoarticular JIA where its course may be faint. Therefore, JIA-U is one of the most challenging pediatric uveitis, associated with major ocular [...] Read more.
Juvenile idiopathic arthritis (JIA) associated uveitis (JIA-U) is the most common extra-articular manifestation of JIA, affecting 10–15% of patients, especially in oligoarticular JIA where its course may be faint. Therefore, JIA-U is one of the most challenging pediatric uveitis, associated with major ocular morbidity and possibly leading to irreversible structural ocular damage and to vision-threatening complications. Adequate management is crucial for avoiding visual impairment complications. Since the introduction of biologic disease modifying anti-rheumatic drugs (bDMARDS), the visual prognosis of JIA-U has dramatically improved over the decades. Tumor necrosis factor-α (TNF-α) blockers are the most used bDMARDs in treating JIA-U with large evidence of efficacy. However, inadequate response to these agents, either due to intolerance or inefficacy, may be observed, requiring a swap to other classes of immunosuppressive agents, including anti-IL-6, anti-CD20, and, more recently, JAK inhibitors. Tocilizumab is a humanized monoclonal antibody to the interelukin-6 receptor preventing IL-6 from binding to its soluble and membrane-bound receptors. A growing body of literature provides promising results about the efficacy of intravenous and subcutaneous tocilizumab in the treatment of JIA-U. A narrative review of the literature on this topic will improve our knowledge on the potential use of tocilizumab in JIA-U. Full article
(This article belongs to the Special Issue State of the Art and Recent Advances in Pediatric Rheumatology)
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Other

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8 pages, 852 KiB  
Brief Report
Corticosteroid Treatment in Sydenham Chorea: A 27-Year Tertiary Referral Center Experience
by Alberto Maria Cappellari, Greta Rogani, Giovanni Filocamo and Antonella Petaccia
Children 2023, 10(2), 262; https://doi.org/10.3390/children10020262 - 31 Jan 2023
Cited by 3 | Viewed by 1276
Abstract
Objective: The purpose of this study was to investigate the effectiveness of corticosteroid therapy for children suffering from Sydenham chorea (SC). Methods: The design of the study was observational, retrospective and conducted at the single center of the Rheumatology Unit of Policlinic Hospital [...] Read more.
Objective: The purpose of this study was to investigate the effectiveness of corticosteroid therapy for children suffering from Sydenham chorea (SC). Methods: The design of the study was observational, retrospective and conducted at the single center of the Rheumatology Unit of Policlinic Hospital of Milan, Italy, from May 1995 to May 2022. All data about the patients were collected from medical records. Results: From a total of 59 patients enrolled in the study (44 females and 15 males; median age 9.3 years, range 7.4–10.6 years), 49 were eligible for primary outcome analysis (10 patients were excluded due to incomplete data). Overall, 75% of patients received steroid therapy, while the remaining cases were treated with symptomatic drugs, including neuroleptics and antiseizure drugs. We found that the duration of chorea was significantly shorter in patients treated with corticosteroids in comparison to those receiving symptomatic treatment (median time: 31 vs. 41 days, p = 0.023). Additionally, patients with arthritis at the onset of the disease had a longer duration of chorea than those without arthritis (median time 90.5 vs. 39 days, p = 0.02). We also found that chorea recurred in 12% of the patients and seemed to be linked to a younger age at onset (p = 0.01). Conclusions: The study suggests that corticosteroid therapy can lead to a faster resolution of SC when compared to neuroleptics and antiseizure drugs treatment. Full article
(This article belongs to the Special Issue State of the Art and Recent Advances in Pediatric Rheumatology)
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