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Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective: 2nd Edition

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology & Rheumatology".

Deadline for manuscript submissions: 20 May 2026 | Viewed by 1028

Special Issue Editors

Prof. Dr. Agnieszka Żebrowska

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Guest Editor
Department of Dermatology and Venereology, Medical University of Lodz, 90-647 Lodz, Poland
Interests: immunodermatology; autoimmune skin disorders; connective tissue diseases; autoimmune blistering diseases; diagnostic tools in dermatology
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Adam Reich

E-Mail Website
Guest Editor
Department of Dermatology, Faculty of Medicine, Medical College, University of Rzeszów, 35-959 Rzeszów, Poland
Interests: itch; psychodermatology; psoriasis; autoimmune connective tissue disorders
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Aleksandra Dańczak-Pazdrowska

E-Mail Website
Guest Editor
Department of Dermatology, Poznan University of Medical Sciences, 60-806 Poznan, Poland
Interests: immunodermatology; autoimmune connective tissue diseases; non-invasive diagnostics of skin diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are excited to announce the launch of the second edition of our Special Issue titled “Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective”. We invite you to visit our website to access the first volume of this Special Issue, available at https://www.mdpi.com/journal/jcm/special_issues/CD9TL006V9.

Connective tissue diseases (CTDs) encompass a diverse group of autoimmune diseases, including systemic lupus erythematosus (SLE), scleroderma, dermatomyositis, and rarer overlap syndromes. Despite different clinical symptoms, these entities share common pathogenetic mechanisms rooted in abnormal immune responses. Each connective tissue disease manifests through a wide spectrum of symptoms, from the mild involvement of a single system to severe complications affecting multiple organs.

The clinical presentation of CTD is very diverse, making diagnosis challenging. Initial symptoms often include fatigue, joint pain, and skin lesions. Diagnosis is based on a combination of clinical criteria, laboratory tests, and imaging studies. Treatment strategies are designed to manage symptoms and modify the underlying immune dysregulation. The basis of therapy comprises immunosuppressive drugs, corticosteroids, and disease-modifying drugs. Moreover, early intervention and a personalized approach are key in optimizing outcomes.

This picture of the common pathogenesis and distinct clinical profiles of CTD highlights the need for tailored diagnostic and therapeutic strategies. Research is ongoing, with the aim of understanding the complexity of these diseases, identifying new therapeutic options, and improving comprehensive patient care.

The objective of this Special Issue is to offer a comprehensive overview of our evolving understanding of the clinical characteristics and prolonged consequences associated with connective tissue diseases. Contributions will explore disease phenotypes, therapeutic approaches, and biomarkers, aiming to provide an in-depth overview of diverse aspects within the realm of connective tissue diseases.

Prof. Dr. Agnieszka Żebrowska
Prof. Dr. Adam Reich
Prof. Dr. Aleksandra Dańczak-Pazdrowska
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 250 words) can be sent to the Editorial Office for assessment.

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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

  • connective tissue diseases
  • lupus erythematosus
  • scleroderma
  • dermatomyositis
  • MCTD
  • clinical picture
  • spectrum of clinical symptoms
  • treatment
  • complications
  • clinical follow-up

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Related Special Issue

Published Papers (2 papers)

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Research

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22 pages, 4084 KB  
Article
Pediatric Sjögren Disease: Clinical Features, Diagnostic Challenges, and Outcomes in a Single-Centre Romanian Case Series
by Mihaela Sparchez, Ioana Filimon, Mirela Crisan, Lidia Man, Simona Corina Senila, Ionut Iarca, Laura Banias and Andreea Liana Bot (Rachisan)
J. Clin. Med. 2026, 15(6), 2199; https://doi.org/10.3390/jcm15062199 - 13 Mar 2026
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Abstract
Background/Objectives: Childhood-onset Sjögren disease (cSjD) is a rare autoimmune disorder with heterogeneous manifestations and ongoing diagnostic challenges, as there are no validated paediatric criteria. Our study aims to characterise the clinical, laboratory, and imaging features of children diagnosed with cSjD at a [...] Read more.
Background/Objectives: Childhood-onset Sjögren disease (cSjD) is a rare autoimmune disorder with heterogeneous manifestations and ongoing diagnostic challenges, as there are no validated paediatric criteria. Our study aims to characterise the clinical, laboratory, and imaging features of children diagnosed with cSjD at a single Romanian paediatric rheumatology centre between 2015 and 2025 and contextualise these findings within the most recent literature. Methods: A retrospective review of 15 consecutive cSjD patients was conducted, including clinical features, autoantibodies, imaging, biopsy findings, treatment, and outcomes. Results: Our cohort showed a significant female predominance (80%) and a broad age range at disease onset (3–15 years). Extraglandular manifestations were more common at presentation than glandular phenotypes (53.3% vs. 40%). Lupus-like extraglandular presentations frequently led to initial misdiagnosis as childhood-onset systemic lupus erythematosus (SLE) in our cohort. Sicca symptoms were present at diagnosis in only 3 of 15 patients (20%) and developed later during follow-up in an additional 4 patients (26.7%). Notably, the cohort included novel findings, such as an unprecedented presentation with acute exudative pericarditis complicated by cardiac tamponade. Anti-SSA antibodies and salivary gland ultrasound abnormalities were highly prevalent (86.7% and 100%, respectively). Anti-SSB antibodies were detected in seven patients (46.7%), with titres showing more variability than those of anti-SSA, ranging from just above the positivity threshold to mildly elevated levels. The association with macro-creatine kinase type I was another distinctive feature of this series. Chronic musculoskeletal pain and dryness were our patients’ most frequently reported symptoms at the last assessment, affecting up to 5/15 (33.3%) in each domain. One patient showed irreversible ocular damage during our study. Conclusions: Extraglandular presentations of cSjD are highly heterogeneous and diagnostically challenging, often occurring without glandular symptoms. Lupus-like systemic features—including facial vasculitic purpura, with or without arthralgia, and occasional pericarditis, as observed in our cohort—may contribute to frequent initial diagnostic misattribution to SLE. Early salivary gland ultrasonography, targeted autoantibody testing, and selective biopsy are essential for timely diagnosis, underscoring the urgent need for paediatric-specific validated classification criteria. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective: 2nd Edition)
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Review

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13 pages, 886 KB  
Review
Bullous Rheumatoid Neutrophilic Dermatosis—A Systematic Review of 28 Cases
by Ewelina Mazur, Dominika Kwiatkowska, Justyna Szczęch, Dominik Samotij and Adam Reich
J. Clin. Med. 2026, 15(3), 1003; https://doi.org/10.3390/jcm15031003 - 26 Jan 2026
Viewed by 454
Abstract
Background/Objectives: Rheumatoid neutrophilic dermatosis (RND) is a rare extra-articular manifestation of rheumatoid arthritis (RA) with variable clinical presentations. Although typically non-blistering, a rare bullous or vesiculobullous subtype has been described, mainly in patients with seropositive and active RA, and may mimic autoimmune blistering [...] Read more.
Background/Objectives: Rheumatoid neutrophilic dermatosis (RND) is a rare extra-articular manifestation of rheumatoid arthritis (RA) with variable clinical presentations. Although typically non-blistering, a rare bullous or vesiculobullous subtype has been described, mainly in patients with seropositive and active RA, and may mimic autoimmune blistering diseases. The objective of this review was to systematically summarize the clinical, histopathological, immunopathological, and therapeutic features of vesiculobullous rheumatoid neutrophilic dermatosis. Methods: A systematic literature review was conducted in accordance with the PRISMA 2020 guidelines utilizing the PubMed, MEDLINE, and Google Scholar databases, which were searched through December 2025. Case reports and case series describing vesiculobullous or bullous RND with extractable patient-level data were included. Non-English articles were translated. Demographic, clinical, histopathological, immunopathological, microbiological, and therapeutic data were extracted and analyzed using Statistica 12.0 software. Results: Results were synthesized descriptively due to clinical heterogeneity and limited sample size. Thirty reported cases were identified, of which 28 non-duplicate cases were included. The mean patient age was 60.8 ± 14.9 years, with a female predominance (male-to-female ratio, 1:2.5). Most patients were of Asian descent (67.9%). Bullous or vesicular lesions most frequently involved the lower legs (64.3%), palms and soles (41.7%), and thighs (35.7%). Rheumatoid factor data were available in 67.9% of patients, all indicating high RA activity. Histopathological examination was reported in 71.4% of cases and most commonly demonstrated a predominantly neutrophilic infiltrate, often dense and extending throughout the dermis, with subepidermal blister formation being the most frequent pattern. Direct immunofluorescence, serological testing for autoimmune bullous diseases, and microbiological investigations were predominantly negative. Dapsone and systemic corticosteroids, alone or combined with RA-specific therapies, were the most commonly used treatments. Conclusions: This review represents the most comprehensive synthesis to date focused exclusively on the bullous/vesiculobullous subtype of RND, highlighting key diagnostic features such as neutrophil-predominant histopathology, negative direct immunofluorescence, and favorable response to dapsone. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective: 2nd Edition)
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