Particularly severe form of refractory gastrointestinal involvement in systemic sclerosis.

A woman with systemic sclerosis presents with a severe and rapidly progressive form of gastrointestinal involvement, mainly marked by recurrent refractory episodes of pseudo-obstruction, culminating in severe malnutrition and dependence of parenteral nutrition. The impact on her quality of life was extremely significant. As a last resort, she started intravenous immunoglobulin with progressive improvement of her symptoms, allowing for the reinstitution of oral diet and removal of parenteral nutrition. After more than 1 year, she maintains clinical stability. Systemic sclerosis has a heterogeneous phenotype, but gastrointestinal involvement is one of the most frequent. Severe manifestations are rare, but can lead to severe malnutrition and are associated with high morbidity and mortality rates. Their management is challenging, as the available treatments are still very limited. A better understanding of its pathophysiology, which seems to be unique, is essential to provide more effective treatments and improving quality of life.

Arthritis or maybe not? Pachydermodactyly: the great mimicker of juvenile idiopathic arthritis.

Arthritis in the paediatric population is the hallmark of many rheumatic inflammatory diseases, as well as other cutaneous, infectious, or neoplastic conditions. It can be quite devastating, whereby prompt recognition and treatment of these disorders are essential. However, arthritis can sometimes be mistaken for other cutaneous or genetic conditions leading to misdiagnosis and overtreatment. Pachydermodactyly is a rare and benign form of digital fibromatosis, usually manifested by swelling of the proximal interphalangeal joints of both hands, mimicking arthritis. The authors report a case of a 12-year-old boy with a one-year history of painless swelling of the proximal interphalangeal joints of both hands that was referred to the Paediatric Rheumatology department due to the suspicion of juvenile idiopathic arthritis. The diagnostic work-up was unremarkable, and the patient remained asymptomatic over an 18-month follow-up period. A diagnosis of pachydermodactyly was assumed and no treatment was introduced, given the benign nature of the disorder and absence of symptoms. Therefore, it was possible to safely discharge the patient from the Paediatric Rheumatology clinic.

Assessment of calcinosis in Portuguese patients with systemic sclerosis - a multicenter study.

INTRODUCTION/OBJECTIVES: The study aims to define the clinical and subclinical calcinosis prevalence, the sensitivity of radiographed site and clinical method for its diagnosis, and the phenotype of Portuguese systemic sclerosis (SSc) patients with calcinosis. METHOD: A cross-sectional multicenter study was conducted with SSc patients fulfilling Leroy/Medsger 2001 or ACR/EULAR 2013 classification criteria, registered in the Reuma.pt. Calcinosis was assessed through clinical examination and radiographs of hands, elbows, knees, and feet. Independent parametric or non-parametric tests, multivariate logistic regression, and sensitivity calculation of radiographed site and clinical method for calcinosis detection were performed. RESULTS: We included 226 patients. Clinical calcinosis was described in 63 (28.1%) and radiological calcinosis in 91 (40.3%) patients, of which 37 (40.7%) were subclinical. The most sensitive location to detect calcinosis was the hand (74.7%). Sensitivity of the clinical method was 58.2%. Calcinosis patients were more often female (p = 0.008) and older (p < 0.001) and had more frequently longer disease duration (p < 0.001), limited SSc (p = 0.017), telangiectasia (p = 0.039), digital ulcers (p = 0.001), esophageal (p < 0.001) and intestinal (p = 0.003) involvements, osteoporosis (p = 0.028), and late capillaroscopic pattern (p < 0.001). In multivariate analysis, digital ulcers (OR 2.63, 95% CI 1.02-6.78, p = 0.045) predicted overall calcinosis, esophageal involvement (OR 3.52, 95% CI 1.28-9.67, p = 0.015) and osteoporosis (OR 4.1, 95% CI 1.2-14.2, p = 0.027) predicted hand calcinosis, and late capillaroscopic pattern (OR 7.6, 95% CI 1.7-34.9, p = 0.009) predicted knee calcinosis. Anti-nuclear antibody positivity was associated with less knee calcinosis (OR 0.021, 95% CI 0.001-0477, p = 0.015). CONCLUSIONS: Subclinical calcinosis high prevalence suggests that calcinosis is underdiagnosed and radiographic screening might be relevant. Multifactorial pathogenesis may explain calcinosis predictors' variability. Key Points • Prevalence of subclinical calcinosis in SSc patients is substantial. • Hand radiographs are more sensitive to detect calcinosis than other locations or clinical method. • Digital ulcers were associated with overall calcinosis, esophageal involvement and osteoporosis were associated with hand calcinosis, and late sclerodermic pattern in nailfold capillaroscopy was associated with knee calcinosis. • Anti-nuclear antibody positivity may be a protective factor for knee calcinosis.