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Calcinosis cutis is a condition that is commonly associated with autoimmune connective tissue diseases. It is characterized by the deposition of insoluble calcium salts in the skin and subcutaneous tissue, which can cause pain, impair function, and have significant impacts on quality of life. Calcinosis cutis is difficult to manage because there is no generally accepted treatment: evidence supporting treatments is mostly comprised of case reports and case series, sometimes yielding mixed findings. Both pharmacologic and procedural interventions have been proposed to improve calcinosis cutis, and each may be suited to different clinical scenarios. This review summarizes current treatment options for calcinosis cutis, with discussion of recommendations based on patient-specific factors and disease severity. [ABSTRACT FROM AUTHOR]

Background/Objectives: Calcinosis cutis is the deposition of insoluble calcium salts, which may cause inflammation, ulceration, pain, and restricted joint mobility. It rarely develops in damaged tissues (dystrophic subtype), most frequently in autoimmune connective tissue diseases (CTDs), but there is very limited data on the prevalence. Also, therapy remains an unsolved issue. In this study, we aimed to collect data on the prevalence of calcinosis in CTD patients to highlight that it is a considerable problem. Methods: A retrospective study was conducted in our department to assess the epidemiology of dystrophic calcinosis in CTDs between January 2003 and January 2024. Results: A total of 839 CTD patients were identified, of whom 56 had calcinosis (6.67%). The mean age of the calcinosis patients at diagnosis of underlying CTD was 41.16 ± 19.47 years. The mean time interval from the onset of calcinosis was 5.96 ± 8.62 years. Systemic sclerosis was the most common CTD complicated by calcinosis (n = 22). Conclusions: Our results are comparable to those reported previously in the literature. Although calcinosis is rare in the overall population, it is a present and unsolved problem in CTD patients. Therefore, further studies are needed on the factors involved in the development and progression of calcinosis as well as its treatment. [ABSTRACT FROM AUTHOR]

A literature review on new-onset autoimmune connective tissue diseases (ACTDs) following COVID-19 is lacking. We evaluated potential associations between COVID-19 and the development of new-onset ACTDs. The "population" was adults with disease terms for ACTDs, including systemic lupus erythematosus (SLE), Sjogren's syndrome, systemic sclerosis (SSc), idiopathic inflammatory myositis (IIM), anti-synthetase syndrome, mixed CTD and undifferentiated CTD, and "intervention" as COVID-19 and related terms. Databases were searched for English-language articles published until September 2022. We identified 2236 articles with 28 ultimately included. Of the 28 included patients, 64.3% were female, with a mean age was 51.1 years. The USA reported the most cases (9/28). ACTD diagnoses comprised: 11 (39.3%) IIM (including four dermatomyositis); 7 (25%) SLE; four (14.3%) anti-synthetase syndrome; four (14.3%) SSc; two (7.1%) other ACTD (one lupus/MCTD overlap). Of eight, four (14.3%) patients (including that with lupus/MCTD) had lupus nephritis. The average time from COVID-19 to ACTD diagnosis was 23.7 days. A third of patients were admitted to critical care, one for treatment of haemophagocytic lymphohistiocytosis in SLE (14 sessions of plasmapheresis, rituximab and intravenous corticosteroids) and nine due to COVID-19. 80% of patients went into remission of ACTD following treatment, while three (10%) patients died—one due to macrophage activation syndrome with anti-synthetase syndrome and two from unreported causes. Our results suggest a potential association between COVID-19 and new-onset ACTDs, notably in young females, reflecting more comprehensive CTD epidemiology. The most common diagnosis in our cohort was IIM. The aetiology and mechanisms by which ACTDs emerge following COVID-19 remain unknown and require further research. [ABSTRACT FROM AUTHOR]

Vitamin D plays a vital role in skin diseases, and vitamin D supplementation seems to warrant protection against occurrence and exacerbation of several dermatological conditions. This review covers the immunopathological and therapeutic role of vitamin D, with a comprehensive illustration in some diseases. [ABSTRACT FROM AUTHOR]

Hydroxychloroquine has been known since the 1940s. It was initially used to treat malaria. Currently, it has a well-established position in the treatment of lupus erythematosus. The knowledge about its benefits is increasing over time. The mechanism of action of hydroxychloroquine reaches far beyond the immunomodulatory effect, and includes a beneficial effect on glycemic control in patients with diabetes and it is believed to have an effect on normalization of lipid levels, including total cholesterol, LDL cholesterol and triglycerides. In treatment of lupus erythematosus hydroxychloroquine allows decreasing the dose of immunosuppressive drugs, thus not only increasing the treatment efficacy, but also reducing the risk of adverse effects. Possible indications for hydroxychloroquine include also granulomatous skin diseases, such as disseminated annular granuloma, cutaneous sarcoidosis, or reactive granulomatous dermatitis. This article discusses the current indications for hydroxychloroquine with focus on recommended therapeutic regimens and monitoring treatment.

Background: Autoimmune connective tissue diseases (AICTD) present with a myriad of clinical manifestations, including cutaneous. These disorders occur because of immune dysregulation that produces autoantibodies targeting connective tissue and internal organs. Screening these autoantibodies not only aids in the diagnosis but also in predicting specific organ involvement and the risk of complications related to the disease. Aims: This study was conducted (a) to study various cutaneous and systemic manifestations of AICTD, (b) to study the antinuclear antibody (ANA) profile and (c) to determine the association between systemic manifestations and antinuclear antibodies. Methodology: Thirty cases of autoimmune connective tissue disease were recruited for the study. A physical examination, clinical profile and ANA profile were done. Results: Nonscarring alopecia (83.3%) was the commonest cutaneous manifestation noted, followed by photosensitivity (73.3%). The most common system affected was musculoskeletal (67%), followed by renal (40%). Anti-dsDNA antibodies were significantly associated with musculoskeletal involvement (85%) with a P value of 0.038 and anti-Sm antibodies with neurological involvement (87%), followed by renal involvement (75%) with a P value of 0.018 and 0.001, respectively. Anti-SCL 70 antibodies were significantly associated with lung involvement (75%), with a P value of 0.009 and the presence of anti-SS-A antibodies with cardiovascular involvement (40%) with a P value of 0.014. Conclusion: Antinuclear antibodies are diagnostic as well as prognostic biomarkers for AICTD and contribute to precision medicine. These antibodies serve as markers to pursue involvement of organs, which in turn helps the treating physician to choose appropriate preventive measures.

Hydroxychloroquine has been known since the 1940s. It was initially used to treat malaria. Currently, it has a well-established position in the treatment of lupus erythematosus. The knowledge about its benefits is increasing over time. The mechanism of action of hydroxychloroquine reaches far beyond the immunomodulatory effect, and includes a beneficial effect on glycemic control in patients with diabetes and it is believed to have an effect on normalization of lipid levels, including total cholesterol, LDL cholesterol and triglycerides. In treatment of lupus erythematosus hydroxychloroquine allows decreasing the dose of immunosuppressive drugs, thus not only increasing the treatment efficacy, but also reducing the risk of adverse effects. Possible indications for hydroxychloroquine include also granulomatous skin diseases, such as disseminated annular granuloma, cutaneous sarcoidosis, or reactive granulomatous dermatitis. This article discusses the current indications for hydroxychloroquine with focus on recommended therapeutic regimens and monitoring treatment. [ABSTRACT FROM AUTHOR]

Abstract Juvenile dermatomyositis shows characteristic skin lesions. However, this does not rule out co‐occurring other autoimmune diseases, which may be more prominent regarding skin manifestations. Co‐occurring other skin autoimmune diseases should not be regarded as a preclusion for dermatomyositis. Here, we present an impressing case of juvenile dermatomyositis with co‐occurring psoriasis.

(1) Background: Calcinosis cutis is a frequent symptom of autoimmune connective tissue diseases leading to pain, transcutaneous expulsion of calcified material and bacterial superinfection. There is a high need for new therapeutic options as no standardized treatment algorithm is established. While case reports indicate beneficial effects of bisphosphonates, standardized evaluation of treatment effects is missing. (2) Methods: In this retrospective analysis we evaluate the effects of intravenous pamidronate, a second-generation bisphosphonate, in seven patients with calcinosis cutis using consecutive clinical pictures, radiological examinations and patient’s subjective evaluation. (3) Results: 5/6 patients reported a reduction of pain, improvement of general condition and cessation of calcinosis progression. Regression of skin lesions was detectable in clinical pictures of 2/6 patients, while 1/6 patients had stable disease. Radiological examination revealed improvement or stable disease in 3/5 patients. Fever was the most common side effect. One out of seven patients developed osteonecrosis of the jaw. (4) Conclusions: Bisphosphonates appear to have beneficial effects in a subgroup of calcinosis cutis patients. While patient’s subjective evaluation was mainly positive, objective assessments showed improvement in approximately half of the cases. With regard to potential severe side effects, a careful risk-benefit evaluation is necessary before treatment initiation.

Background: Autoimmune connective tissue diseases (AICTD) present with a myriad of clinical manifestations, including cutaneous. These disorders occur because of immune dysregulation that produces autoantibodies targeting connective tissue and internal organs. Screening these autoantibodies not only aids in the diagnosis but also in predicting specific organ involvement and the risk of complications related to the disease. Aims: This study was conducted (a) to study various cutaneous and systemic manifestations of AICTD, (b) to study the antinuclear antibody (ANA) profile and (c) to determine the association between systemic manifestations and antinuclear antibodies. Methodology: Thirty cases of autoimmune connective tissue disease were recruited for the study. A physical examination, clinical profile and ANA profile were done. Results: Nonscarring alopecia (83.3%) was the commonest cutaneous manifestation noted, followed by photosensitivity (73.3%). The most common system affected was musculoskeletal (67%), followed by renal (40%). Anti-dsDNA antibodies were significantly associated with musculoskeletal involvement (85%) with a P value of 0.038 and anti-Sm antibodies with neurological involvement (87%), followed by renal involvement (75%) with a P value of 0.018 and 0.001, respectively. Anti-SCL 70 antibodies were significantly associated with lung involvement (75%), with a P value of 0.009 and the presence of anti-SS-A antibodies with cardiovascular involvement (40%) with a P value of 0.014. Conclusion: Antinuclear antibodies are diagnostic as well as prognostic biomarkers for AICTD and contribute to precision medicine. These antibodies serve as markers to pursue involvement of organs, which in turn helps the treating physician to choose appropriate preventive measures. [ABSTRACT FROM AUTHOR]

Juvenile dermatomyositis shows characteristic skin lesions. However, this does not rule out co‐occurring other autoimmune diseases, which may be more prominent regarding skin manifestations. Co‐occurring other skin autoimmune diseases should not be regarded as a preclusion for dermatomyositis. Here, we present an impressing case of juvenile dermatomyositis with co‐occurring psoriasis. [ABSTRACT FROM AUTHOR]

Autoimmune connective tissue diseases (ACTDs) are heterogeneous disorders associated with different manifestations, clinical course of disease and prognosis among patients. Although recent advances in understanding the pathogenesis have led to major progress in target-oriented therapy, they still remain incurable. Novel biological drugs, cellular therapy and hematopoietic stem cell transplantation (HSCT) are real hopes for treatment development in the future. The concept of both autologous and allogeneic HSCT in children with autoimmune diseases is developing energetically since 1996, when the first HSCT was performed. Nowadays, after 17 years of clinical experience, both types of HSCT remain attractive and powerful salvage methods of treatment. However, there are still many doubts and unclear issues, which need further investigation. In the present review, we provide an overview of the knowledge concerning actual data on HSCT in a pediatric group of patients with different ACTDs, focused on juvenile idiopathic arthritis, systemic lupus erythematosus and systemic sclerosis. [ABSTRACT FROM AUTHOR]

Viral infections have been associated with autoimmune connective tissue diseases. To evaluate whether active infection by Epstein-Barr virus (EBV), cytomegalovirus (CMV), human herpesvirus (HHV)-6, -7, -8, as well as parvovirus B19 (B19V) occur in patients with autoimmune connective tissue diseases, viral DNA loads were assessed in paired samples of serum and peripheral blood mononuclear cells (PBMCs) of 115 patients affected by different disorders, including systemic sclerosis, systemic, and discoid lupus erythematosus, rheumatoid arthritis, and dermatomyositis. Two additional groups, patients affected by inflammatory diseases (n = 51) and healthy subjects (n = 58) were studied as controls. The titers of anti-HHV-6 and anti-EBV antibodies were also evaluated. Cell-free HHV-6 serum viremia was detected in a significantly higher proportion of connective tissue diseases patients compared to controls ( P < 0.0002); a significant association between HHV-6 reactivation and the active disease state was found only for lupus erythematosus ( P = 0.021). By contrast, the rate of cell-free EBV viremia was similar in patients and controls groups. Cell-free CMV, HHV-8, and B19V viremia was not detected in any subject. Anti-HHV-6 and anti-EBV early antigen IgG titers were both significantly higher in autoimmune diseases patients as compared to healthy controls, although they were not associated with the presence of viremia. EBV, HHV-6, -7 prevalence and viral load in PBMCs of patients with connective tissue diseases and controls were similar. These data suggest that HHV-6 may act as a pathogenic factor predisposing patients to the development of autoimmune connective tissue diseases or, conversely, that these disorders may predispose patients to HHV-6 reactivation. J Med. Virol. 85:1925-1934, 2013. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The endothelial cell adhesion molecule, CD146, is expressed on ≈ 2% of normal circulating T cells, correlating with T cell activation, endothelial interactions and T helper type 17 ( Th17) effector functions. In this study, we have characterized CD146 expression in circulating T cells from healthy controls and patients with stable, well-controlled autoimmune connective tissue diseases ( CTDs). In vitro, anti- CD3/anti- CD28 stimulation induced CD146 expression in both CD4 and CD8 T cells. In healthy controls and CTD patients, CD146 was associated with expression of recent and chronic activation markers ( CD25+, OX-40+, CD69+, CD27-) and was confined to CD45 RO+/ RA-/ CD28+ populations within the CD4 subset. Except for CD69, these markers were not associated with CD146 in the CD8 subset. Surprisingly, most CTD patients exhibited no T cell hyperactivation ex vivo. In five of five patients with secondary Sjögren's syndrome circulating T cells appeared activated despite therapy, and CD146 up-regulation, associated with activation markers, was observed both on CD4 and CD8 T cells. There was no association between CD146 and putative pro-atherogenic T cell subsets. In conclusion, the relationship of CD146 expression to T cell activation differs between T cell subsets in healthy subjects and correlates with systemic hyperactivity, where present, in patients with CTDs, as exemplified by the patients with secondary Sjögren's syndrome in this study. [ABSTRACT FROM AUTHOR]

Aims: Patients with autoimmune connective tissue diseases (CTDs) have a high burden of valvular heart disease and are often thought of as high surgical risk patients., Methods and Results: Patients undergoing aortic valve replacement (AVR) were identified in the Nationwide Readmissions Database between January 2012 and December 2018. Patients with a history of systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, mixed C, Sjögren syndrome, polymyositis, and dermatomyositis were included in the CTD cohort. Patients undergoing coronary artery bypass grafting concomitantly with AVR were excluded. A total of 569 600 hospitalizations were included, of which16 531 (2.9%) had CTD. CTD patients were more likely to be females, with higher rates of heart failure, pulmonary hypertension, and more likely to be insured by Medicare. CTD patients had lower mortality than non-CTD patients [odds ratio (OR) 0.66; 95% confidence interval (CI): 0.59-0.74] and stroke [OR 0.87; 95% (CI): 0.79-0.97]. CTD patients undergoing SAVR had lower mortality [OR 0.69; 95% (CI): 0.60-0.80] and stroke [OR 0.86; 95% (CI): 0.75-0.98). CTD patients undergoing TAVR had lower mortality outcomes [OR 0.67; 95% (CI): 0.56-0.80]; however, they had comparable stroke outcomes [OR 0.97; 95% (CI): 0.83-1.13, P  = 0.69]., Conclusions: Outcomes for patients with CTD requiring AVR are not inferior to their non-CTD counterparts. A comprehensive heart team selection of patients undergoing AVR approaches should place CTD history under consideration; however, pre-existing CTD should not be prohibitive of AVR interventions., (© The Author(s) 2022. Published by Oxford University Press on behalf of European Society of Cardiology.)

(1) Background: Calcinosis cutis is a frequent symptom of autoimmune connective tissue diseases leading to pain, transcutaneous expulsion of calcified material and bacterial superinfection. There is a high need for new therapeutic options as no standardized treatment algorithm is established. While case reports indicate beneficial effects of bisphosphonates, standardized evaluation of treatment effects is missing. (2) Methods: In this retrospective analysis we evaluate the effects of intravenous pamidronate, a second-generation bisphosphonate, in seven patients with calcinosis cutis using consecutive clinical pictures, radiological examinations and patient's subjective evaluation. (3) Results: 5/6 patients reported a reduction of pain, improvement of general condition and cessation of calcinosis progression. Regression of skin lesions was detectable in clinical pictures of 2/6 patients, while 1/6 patients had stable disease. Radiological examination revealed improvement or stable disease in 3/5 patients. Fever was the most common side effect. One out of seven patients developed osteonecrosis of the jaw. (4) Conclusions: Bisphosphonates appear to have beneficial effects in a subgroup of calcinosis cutis patients. While patient's subjective evaluation was mainly positive, objective assessments showed improvement in approximately half of the cases. With regard to potential severe side effects, a careful risk-benefit evaluation is necessary before treatment initiation. [ABSTRACT FROM AUTHOR]

NGS technologies have transformed clinical diagnostics and broadly used from neonatal emergencies to adult conditions where the diagnosis cannot be made based on clinical symptoms. Autoimmune diseases reveal complicate molecular background and traditional methods could not fully capture them. Certainly, NGS technologies meet the needs of modern exploratory research, diagnostic and pharmacotherapy. Therefore, the main purpose of this review was to briefly present the application of NGS technology used in recent years in the understanding of autoimmune diseases paying particular attention to autoimmune connective tissue diseases. The main issues are presented in four parts: (a) panels, whole-genome and -exome sequencing (WGS and WES) in diagnostic, (b) Human leukocyte antigens (HLA) as a diagnostic tool, (c) RNAseq, (d) microRNA and (f) microbiome. Although all these areas of research are extensive, it seems that epigenetic impact on the development of systemic autoimmune diseases will set trends for future studies on this area. [ABSTRACT FROM AUTHOR]

An overlap syndrome is a medical condition which shares features of at least two more widely recognized disorders. Autoimmune connective tissue diseases include systemic lupus erythematosus (SLE), scleroderma, polymyositis, dermatomyositis, rheumatoid arthritis and Sjögren's syndrome where overlap syndrome most commonly seen in combination with SLE and systemic sclerosis (SSc). Sjogren's is an autoimmune exocrinopathy, in which systemic diseases such as arthritis, interstitial lung disease and renal disease may develop in addition to the pathognomonic features such as dry eyes and mouth. The other associated disease with Sjogren's includes sialadenitis. Sialadenitis of the parotid gland is one of the major disorders of salivary gland. This article presents a rare case report of a patient diagnosed with sialadenitis of the parotid gland and associated with progressive SSc/lupus overlap syndrome and secondary Sjogren's. [ABSTRACT FROM AUTHOR]

The purpose of this study was to examine whether application of optical coherence tomography (OCT) measurements can provide a useful biomarker for distinguishing central nervous system (CNS) involvement in autoimmune connective tissue diseases (CTD) from multiple sclerosis (MS). An observational study included non-optic neuritis eyes of 121 individuals: 59 patients with MS, 30 patients with CNS involvement in CTD, and 32 healthy controls. OCT examination was performed in all subjects to measure retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, ganglion cell layer-inner plexiform layer (GCIPL) thickness, and volume of the macula. There was a significant group effect with regard to superior optic disc RNFL, macular RNFL, GCC, and GCIPL thickness, and macular volume. Post-hoc analysis revealed that MS patients have significantly smaller macular volume and thinner superior optic disc RNFL, macular RNFL, GCC, and GCIPL compared to healthy controls. CTD patients have significantly smaller superior optic disc RNFL, GCIPL, and GCC thickness compared to healthy controls. However, no significant group differences were observed between the patient groups (MS vs. CTD) on any outcome. Although a prominent retinal thinning may be a useful biomarker in MS patients, in a general population of individuals with a confirmed CNS involvement the use of OCT is not specific enough to discriminate between MS and autoimmune CTD. [ABSTRACT FROM AUTHOR]