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

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

Deadline for manuscript submissions: 10 March 2025 | Viewed by 13029

Special Issue Editors

Prof. Dr. Agnieszka Żebrowska

E-Mail Website
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
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
Prof. Dr. Adam Reich

E-Mail Website
Guest Editor
Department of Dermatology, Institute of Medical Sciences, Medical College of Rzeszow University, 35-959 Rzeszow, Poland
Interests: itch; psychodermatology; psoriasis; autoimmune connective tissue disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

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 itself in a wide spectrum of symptoms, from the mild involvement of one system to severe complications affecting multiple organs.

The clinical presentation of CTD is very diverse, making the diagnosis of this disease 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 aim 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 to optimizing the outcomes.

This comprehensive understanding of the common pathogenesis and distinct clinical profiles of CTD highlights the need for tailored diagnostic and therapeutic strategies. Ongoing research is aimed at understanding the complexity of these diseases, constantly searching for new therapeutic options and improving comprehensive patient care.

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

Prof. Dr. Agnieszka Żebrowska
Prof. Dr. Aleksandra Dańczak-Pazdrowska
Prof. Dr. Adam Reich
Guest Editors

Manuscript Submission Information

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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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Published Papers (5 papers)

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Research

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9 pages, 232 KiB  
Article
No Effect of Low-Dose Glucocorticoid Maintenance Therapy on Damage in SLE Patients in Prolonged Remission: A Propensity Score Analysis of the Longitudinal Lupus-Cruces-Bordeaux Inception Cohort
by Guillermo Ruiz-Irastorza, Diana Paredes-Ruiz, Luis Dueña-Bartolome, Halbert Hernandez-Negrin, Victor Moreno-Torres, Christophe Richez and Estibaliz Lazaro
J. Clin. Med. 2024, 13(20), 6049; https://doi.org/10.3390/jcm13206049 - 11 Oct 2024
Viewed by 688
Abstract
Background/Objectives: Prolonged remission on low-dose glucocorticoids (GC) is a main goal in patients with systemic lupus erythematosus (SLE). The aim of this study is to assess whether GC ≤ 5 mg/d increases the risk of damage accrual in patients with SLE in [...] Read more.
Background/Objectives: Prolonged remission on low-dose glucocorticoids (GC) is a main goal in patients with systemic lupus erythematosus (SLE). The aim of this study is to assess whether GC ≤ 5 mg/d increases the risk of damage accrual in patients with SLE in prolonged remission. Methods: Observational study of routine clinical care data of the inception Lupus Cruces-Bordeaux cohort. Only patients in DORIS remission during five consecutive yearly visits were included. The endpoint was damage accrual during the 5-year follow-up, either global or specific damage: GC-induced, cardiovascular (CV), lupus and other. Patients no longer on GC therapy by year 5 (GC5-Off) were compared with those who continued GC therapy (GC5-On). Comparisons were made by Cox and Poisson regressions, which were adjusted with propensity score (PE) in order to control for confounding by indication. Results: 132 patients were included, 56 in the GC5-On and 76 in the GC5-Off groups. All patients were on GC ≤ 5 mg/d for the whole follow-up, the mean prednisone dose in the GC5-On group being 2.96 mg/d during the whole study period and 2.6 mg/d during the 5th year. Fourteen patients (10.6%) accrued damage. More patients in the GC5-On group accrued global damage, 16% vs. 7% in the GC5-Off group, p = 0.08, mainly at CV domains (7% vs. 1%, respectively, p = 0.16). In the PS-adjusted Cox and Poisson regressions, the GC5-On group was not significantly associated with global (p = 0.39) or CV damage accrual (p = 0.62), nor with the absolute (p = 0.40) or CV-restricted final SDI scores (p = 0.63). The C-index of the propensity score model was 0.79. Conclusions: Maintaining doses of prednisone < 5 mg/d in lupus patients in prolonged remission is not associated with an increased risk of damage accrual. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective)

Review

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22 pages, 2756 KiB  
Review
Psoriasis and Lupus Erythematosus—Similarities and Differences between Two Autoimmune Diseases
by Aleksandra Fijałkowska, Joanna Wojtania, Anna Woźniacka and Ewa Robak
J. Clin. Med. 2024, 13(15), 4361; https://doi.org/10.3390/jcm13154361 - 25 Jul 2024
Viewed by 993
Abstract
Systemic lupus erythematosus (SLE) and psoriasis (Ps) are two clinically distinct diseases with different pathogenesis. However, recent studies indicate some similarities in both clinical presentation and pathogenetic mechanisms. The coexistence of both entities is very uncommon and has not been fully elucidated. Thus, [...] Read more.
Systemic lupus erythematosus (SLE) and psoriasis (Ps) are two clinically distinct diseases with different pathogenesis. However, recent studies indicate some similarities in both clinical presentation and pathogenetic mechanisms. The coexistence of both entities is very uncommon and has not been fully elucidated. Thus, it remains a diagnostic and therapeutic challenge. In fact, drugs used in SLE can induce psoriatic lesions, whereas phototherapy effective in Ps is an important factor provoking skin lesions in patients with SLE. The aim of this work is to discuss in detail the common pathogenetic elements and the therapeutic options effective in both diseases. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective)
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21 pages, 2666 KiB  
Review
Anti-Th/To Antibodies in Scleroderma: Good Prognosis or Serious Concern?
by Maria Możdżan, Andrzej Węgiel, Laura Biskup, Olga Brzezińska and Joanna Makowska
J. Clin. Med. 2024, 13(11), 3022; https://doi.org/10.3390/jcm13113022 - 21 May 2024
Viewed by 2745
Abstract
Systemic sclerosis (SSc) represents a rare and intricate autoimmune connective tissue disease, the pathophysiology of which has not been fully understood. Its key features include progressive fibrosis of the skin and internal organs, vasculopathy and aberrant immune activation. While various anti-nuclear antibodies can [...] Read more.
Systemic sclerosis (SSc) represents a rare and intricate autoimmune connective tissue disease, the pathophysiology of which has not been fully understood. Its key features include progressive fibrosis of the skin and internal organs, vasculopathy and aberrant immune activation. While various anti-nuclear antibodies can serve as biomarkers for the classification and prognosis of SSc, their direct role in organ dysfunction remains unclear. Anti-Th/To antibodies are present in approximately 5% of SSc patients, and are particularly prevalent among those with the limited subtype of the disease. Although the presence of these autoantibodies is associated with a mild course of the disease, there is a strong connection between them and severe clinical manifestations of SSc, including interstitial lung disease, pulmonary arterial hypertension and gastrointestinal involvement. Also, the additional clinical correlations, particularly with malignancies, need further research. Moreover, the disease’s course seems to be influenced by antibodies, specific serum cytokines and TLR signaling pathways. Understanding the relationships between presence of anti-Th/To, its molecular aspects and response to treatment options is crucial for the development of novel, personalized therapeutic techniques and should undergo profound analysis in future studies. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective)
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12 pages, 1749 KiB  
Review
Nodular/Keloidal Scleroderma with No Systemic Involvement—A Case Report and a Review of the Literature
by Ioana Irina Trufin, Loredana Ungureanu, Salomea-Ruth Halmágyi, Adina Patricia Apostu and Simona Corina Șenilă
J. Clin. Med. 2024, 13(9), 2662; https://doi.org/10.3390/jcm13092662 - 1 May 2024
Viewed by 1564
Abstract
Nodular or keloidal scleroderma is a rare condition with unclear cause and sporadic mentions in the medical literature. It was first recognized in the 19th century, yet its classification is still debated due to the limited number of reported cases. This rare variant [...] Read more.
Nodular or keloidal scleroderma is a rare condition with unclear cause and sporadic mentions in the medical literature. It was first recognized in the 19th century, yet its classification is still debated due to the limited number of reported cases. This rare variant of scleroderma is associated with either progressive systemic sclerosis or localized morphea. Clinically, it presents with asymptomatic nodules or plaques, resembling spontaneous keloid formation, often found on the trunk and proximal extremities. Recent literature reviews show a predominance of women with a mean age of 44 years. Diagnosis relies on clinical and histopathological findings, which usually show overlapping features of both scleroderma and true keloids, secondarily to an excessive fibrosing reaction attributed to collagen formation. We present an unusual case of a 70-year-old female patient who displayed the coexistence of two distinct subtypes of morphea (nodular/keloidal and linear), and exclusive skin involvement, which contrasts with the typical presentation of nodular/keloidal scleroderma, often associated with organ-specific disease. However, recent publications have diverged from previous ones regarding systemic sclerosis, with no systemic involvement reported between 2018 and 2024, which we evaluated in our descriptive literature review. With less than 50 cases reported in total, our case underlines the importance of recognizing this rare disease, ensuring appropriate evaluation, treatment, and follow-up. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective)
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21 pages, 3564 KiB  
Review
The Spectrum of Cutaneous Manifestations in Lupus Erythematosus: A Comprehensive Review
by Aleksandra Fijałkowska, Marcelina Kądziela and Agnieszka Żebrowska
J. Clin. Med. 2024, 13(8), 2419; https://doi.org/10.3390/jcm13082419 - 21 Apr 2024
Viewed by 6321
Abstract
Lupus erythematosus (LE) is an autoimmune inflammatory disease with complex etiology. LE may present as a systemic disorder affecting multiple organs or be limited solely to the skin. Cutaneous LE (CLE) manifests with a wide range of skin lesions divided into acute, subacute [...] Read more.
Lupus erythematosus (LE) is an autoimmune inflammatory disease with complex etiology. LE may present as a systemic disorder affecting multiple organs or be limited solely to the skin. Cutaneous LE (CLE) manifests with a wide range of skin lesions divided into acute, subacute and chronic subtypes. Despite classic forms of CLE, such as malar rash or discoid LE, little-known variants may occur, for instance hypertrophic LE, chilblain LE and lupus panniculitis. There are also numerous non-specific manifestations including vascular abnormalities, alopecia, pigmentation and nail abnormalities or rheumatoid nodules. Particular cutaneous manifestations correlate with disease activity and thus have great diagnostic value. However, diversity of the clinical picture and resemblance to certain entities delay making an accurate diagnosis The aim of this review is to discuss the variety of cutaneous manifestations and indicate the clinical features of particular CLE types which facilitate differential diagnosis with other dermatoses. Although in diagnostically difficult cases histopathological examination plays a key role in the differential diagnosis of LE, quick and accurate diagnosis ensures adequate therapy implementation and high quality of life for patients. Cooperation between physicians of various specialties is therefore crucial in the management of patients with uncommon and photosensitive skin lesions. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Connective Tissue Diseases: A Clinician's Perspective)
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