Calcinosis cutis in autoimmune connective tissue diseases

Gutierrez, Albert; Wetter, David A.

doi:10.1111/j.1529-8019.2012.01492.x

Cited by 117 publications

(104 citation statements)

References 72 publications

(114 reference statements)

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“…Factors that trigger the development of calcinosis are not completely understood. They may include damage to the ECM proteins, alterations in the mechanisms responsible for inhibition of the calcification process, and abnormalities in the mitochondrial calcium and phosphate levels (Gutierrez and Wetter, 2012). It has been previously reported that the 6A allele has two-folds lower promoter activity than the 5A allele (Chaudhary et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis

et al. 2016

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ABSTRACT. The major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. ECM components are degraded by matrix metalloproteinases (MMP). Promoter region polymorphisms in MMP genes may influence gene expression, resulting in an imbalance between ECM protein production and degradation. Here, we analyzed MMP1 -1607 1G/2G (rs1799750), MMP3 -1171 5A/6A (rs3025058), and MMP9 -1562 C/T 2 T.F. Rech et al. Genetics and Molecular Research 15 (4): gmr15049077(rs3918242) polymorphisms in relation to susceptibility to SSc and its clinical features. The patient group included 98 individuals with longstanding or recently diagnosed disease, meeting the American College of Rheumatology or LeRoy and Medsger criteria for SSc; the control group included 100 healthy blood donors. All participants were of European descent. Genotyping was performed by polymerase chain reaction followed by restriction digestion. Genotype and allele frequencies of MMP polymorphisms were similar between the two groups. In secondary analyses, significantly higher frequency of 1G/2G genotype from MMP1 polymorphism was observed for patients testing positive for antinuclear autoantibodies (P = 0.007), while 1G/1G genotype was associated with interstitial lung disease development (P = 0.018). The 6A/6A genotype from MMP3 polymorphism was absent in patients with calcinosis (P = 0.011), while the MMP3 5A/5A genotype correlated with the presence of anti-topoisomerase I antibodies (P = 0.009) and reduced diffusing capacity for carbon monoxide (P = 0.024). These results suggest that MMP polymorphisms are not associated with SSc susceptibility, although MMP1 and MMP3 variants are associated with specific SSc clinical and laboratory features.

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Section: Discussionmentioning

confidence: 99%

Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis

et al. 2016

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“…(Table 2) However, no therapy has proven to be reproducibly efficacious, and evidence in the literature is limited to open-label case studies and case series [43,46,68]. …”

Section: Treatmentmentioning

confidence: 99%

The Presentation, Assessment, Pathogenesis, and Treatment of Calcinosis in Juvenile Dermatomyositis

et al. 2014

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Calcinosis is one of the hallmark sequelae of juvenile dermatomyositis (JDM), and despite recent progress in the therapy of JDM, dystrophic calcification still occurs in approximately one-third of patients. This review discusses our current, albeit limited, understanding of risk factors for the development of calcinosis in JDM, as well as approaches to assessment, and current views on its pathogenesis. Anecdotal approaches to treating calcinosis associated with JDM, including both anti-inflammatory therapies and agents aimed at inhibiting the deposition of calcium hydroxyapatite, are reviewed. An improved understanding of the pathogenesis of calcinosis, the establishment of standardized measurement tools to assess calcinosis, and randomized controlled trials employing more sensitive outcome measures are needed to develop efficacious therapies for this often disabling complication.

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“…4 Unfortunately, no medical therapy is reliably efficacious, and surgical management is often the best option. 4,9 …”

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confidence: 99%

Identification of Clinical Features and Autoantibodies Associated With Calcinosis in Dermatomyositis

et al. 2014

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IMPORTANCE Prior studies have estimated that up to 20% of adults with dermatomyositis (DM) have calcinosis, which can lead to significant morbidity. Identification of risk factors may provide a better understanding of the pathogenesis and ultimately therapy for this difficult clinical problem. Risk factors for calcinosis in adults with DM have not been extensively studied. OBJECTIVES To determine the prevalence of calcinosis and to identify associated clinical features in a cohort of extensively phenotyped adults with DM. DESIGN, SETTING, AND PARTICIPANTS A cross-sectional study of 126 patients diagnosed as having DM from January 1, 2006, through January 1, 2013, was performed. Patients were adults (≥18 years of age) attending the Stanford University Medical Center clinic. MAIN OUTCOMES AND MEASURES Calcinosis, defined as the presence of calcium deposition in the skin and subcutaneous tissues on physical examination. RESULTS Fourteen patients (11.1%) had calcinosis, with the extremities most commonly involved. Patients with vs those without calcinosis had a longer disease duration (median, 6.9 years; range, 2.4–18.1; vs median, 3.9 years; range, 0.2-19.2 years; P = .003) and more fingertip ulcers (50.0% vs 9.3%, P < .001). An association between calcinosis and both interstitial lung disease and anti–MDA-5 autoantibodies was identified, but this association did not persist in multivariate models that adjusted for fingertip ulcers. Fingertip ulcers and disease duration were strongly associated with calcinosis in all multivariate models, independent of the underlying autoantibody present. Autoantibodies to NXP-2 were associated with calcinosis (odds ratio, 15.52; 95% CI, 2.01-119.90), whereas anti–transcriptional intermediary factor 1-γ antibodies were protective (odds ratio, 0.2; 95% CI, 0.01-0.99) in multivariate analyses that adjusted for fingertip ulcers and other covariates. CONCLUSIONS AND RELEVANCE Calcinosis was a relatively uncommon clinical feature in our cohort of adults with DM. Our data suggest that calcinosis is positively associated with longer disease duration, fingertip ulcers, and NXP-2 autoantibodies and negatively associated with transcriptional intermediary factor 1-γ antibodies. A common vascular mechanism may underlie the development of both calcinosis and fingertip ulcers in patients with DM.

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Calcinosis cutis in autoimmune connective tissue diseases

Cited by 117 publications

References 72 publications

Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis

Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis

The Presentation, Assessment, Pathogenesis, and Treatment of Calcinosis in Juvenile Dermatomyositis

Identification of Clinical Features and Autoantibodies Associated With Calcinosis in Dermatomyositis

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