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: 19 September 2024 | Viewed by 4188

Special Issue Editors


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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

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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

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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
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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

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Keywords

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

Published Papers (3 papers)

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Review

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
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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
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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 975
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
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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 1917
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
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