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Concept: CREST syndrome


Raynaud’s phenomenon often precedes the diagnosis of systemic sclerosis and is the first symptom of the disease in many cases. Antinuclear antibody positivity can assist in the early identification of cases of isolated Raynaud’s phenomenon likely to progress to systemic sclerosis. However, the specific differences between rate of progression for different scleroderma hallmark antibodies is less clear. We review the predictive potential of ANA positivity and nailfold capillaroscopy for identifying cases of Raynaud’s phenomenon which may progress to connective tissue diseases. We also have reviewed data from our own large scleroderma cohort to explore the relationship between antibody subtype and time to development of SSc. Duration of pre-existing Raynaud’s phenomenon may be an important determinant of the profile of systemic sclerosis cases identified through screening. Ninety-five percent of our patients with isolated Raynaud’s phenomenon, negative autoimmune serology on more than one visit and normal capillaroscopy score showed no progression to connective tissue disease. Duration of antecedent Raynaud’s phenomenon differs between disease subsets and scleroderma-specific ANA patterns.

Concepts: Immune system, Blood, Rheumatology, Autoimmune diseases, Scleroderma, Systemic scleroderma, Raynaud's phenomenon, CREST syndrome


Raynaud’s phenomenon and digital ulcers (DUs) are frequent among systemic sclerosis (SSc) patients. Our aim was to investigate the diagnostic and predictive value for DU of endothelial dysfunction biomarkers (flow-mediated dilatation (FMD), serum levels of endothelin-1 (ET-1), and ADMA), angiogenic/angiostatic biomarkers (vascular endothelial growth factor (VEGF), endoglin, and endostatin), and nailfold videocapillaroscopy (NVC). We compared our results with a literature review. In a cohort study of 77 SSc patients, we followed two groups of patients: (i) naïve DU patients (39) and (ii) active DU at baseline (38 patients) for 3 years. Telangiectasia (p < 0.001) and diffuse disease subset (p = 0.001) were significantly more frequent in patients with active DU at enrolment. Additionally, NVC late scleroderma pattern (AUC 0.846, 95%CI 0.760-0.932), lower values of FMD (AUC 0.754, 95%CI 0.643-0.864), increased serum levels of ET-1 (AUC 0.758, 95%CI 0.649-0.866), ADMA (AUC 0.634, 95%CI 0.511-0.757), and endoglin as well as low VEGF serum levels (AUC 0.705, 95%CI 0.579-0.830) were significantly associated to new DU events in the 3-year follow-up. Cox regression analysis showed that FMD > 9.41 % (HR 0.37, 95%CI 0.14-0.99); ET-1 >11.85 pmol/L (HR 3.81, 95%CI 1.41-10.26) and late NVC pattern (HR 2.29, 95%CI 0.97-5.38) were independent predictors of DU recurrence. When estimating the probability of occurrence of first DU in naïve DU patients, only late NVC pattern (HR 12.66, 95%CI 2.06-77.89) was an independent predictor factor. In conclusion, late scleroderma patterns in NVC are the best independent predictors of SSc patients who are at risk of developing DU. Endothelial dysfunction assessed by FMD and ET-1 was also found to be an independent predictor of DU recurrence in a 3-year follow-up.

Concepts: Angiogenesis, Vascular endothelial growth factor, Rheumatology, Endothelium, Scleroderma, Systemic scleroderma, Raynaud's phenomenon, CREST syndrome


To report the predictive value of nail-fold capillaroscopy (NFC) patterns of vasculopathy for systemic sclerosis (Scleroderma; SSc) in an unselected cohort of patients with Raynaud’s phenomenon (RP).

Concepts: Rheumatology, Autoimmune diseases, Finger, Scleroderma, Systemic scleroderma, Raynaud's phenomenon, CREST syndrome, Mucinoses


Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis. While most cutaneous mastocytoses occur in children and are asymptomatic, TMEP occurs predominantly in adults and is associated with systemic manifestations, requiring medical management. TMEP is typically characterised by scattered red-brown macules on the trunk and extremities, but must be differentiated from other telangiectatic conditions such as scleroderma, hereditary haemorrhagic telangiectasia and telangiectasias secondary to cirrhosis. Practitioners must be aware that variants to the classic presentation of TMEP exist, such as the ringed telangiectasias we describe. Diagnostic workup including tissue biopsy must be considered in such patients after a thorough history and physical have been performed and other telangiectatic processes have been ruled out. The treatment of cutaneous mastocytosis aims at controlling symptoms and preventing mast cell degranulation. Cosmetic treatment includes the use ofPsoralen and ultraviolet A (PUVA) therapy, total skin electron beam radiation and flashlamp pulsed-dye laser treatment.

Concepts: Ultraviolet, Mast cell, Mastocytosis, Degranulation, Telangiectasia, Dermal and subcutaneous growths, Hereditary hemorrhagic telangiectasia, CREST syndrome


The objective of the study is to determine the importance of the mode of onset as prognostic factor in systemic sclerosis (SSc). Data were collected from the Spanish Scleroderma Registry (RESCLE), a nationwide retrospective multicenter database created in 2006. As first symptom, we included Raynaud’s phenomenon (RP), cutaneous sclerosis, arthralgia/arthritis, puffy hands, interstitial lung disease (ILD), pulmonary arterial hypertension (PAH), and digestive hypomotility. A total of 1625 patients were recruited. One thousand three hundred forty-two patients (83%) presented with RP as first symptom and 283 patients (17%) did not. Survival from first symptom in those patients with RP mode of onset was higher at any time than those with onset as non-Raynaud’s phenomenon: 97 vs. 90% at 5 years, 93 vs. 82% at 10 years, 83 vs. 62% at 20 years, and 71 vs. 50% at 30 years (p < 0.001). In multivariate analysis, factors related to mortality were older age at onset, male gender, dcSSc subset, ILD, PAH, scleroderma renal crisis (SRC), heart involvement, and the mode of onset with non-Raynaud's phenomenon, especially in the form of puffy hands or pulmonary involvement. The mode of onset should be considered an independent prognostic factor in systemic sclerosis and, in particular, patients who initially present with non-Raynaud's phenomenon may be considered of poor prognosis.

Concepts: Pulmonology, Medical terms, Heart, Rheumatology, Scleroderma, Systemic scleroderma, Raynaud's phenomenon, CREST syndrome


The aim of this work was to study inter- and intra-observer agreement for the diagnosis of scleroderma pattern by wide-field capillaroscopy.

Concepts: Rheumatology, Scleroderma, Raynaud's phenomenon, CREST syndrome


Chronic posterior elbow soft tissue defects often require soft tissue reconstruction because of exposure of the underlying triceps tendon and proximal ulna. Current options for soft tissue coverage require sacrifice of a local muscle or microsurgery. The purpose of this study is to evaluate patient and surgical outcomes after reconstruction of small-sized to medium-sized (<50 cm) posterior elbow defects with bipedicle advancement flaps. A retrospective chart review was performed for 3 patients who underwent posterior elbow reconstruction with bipedicle flaps. The etiology of the soft tissue elbow defect was chronic infected olecranon bursitis (n=2) and exposed olecranon plate after open fracture (n=1). Patient comorbidities included: diabetes, CREST (Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia) syndrome, and rheumatoid arthritis. The mean patient age at time of reconstruction was 44 years (39 to 51 y), and the mean area of soft tissue defect was 39.3 cm (24 to 54 cm) after debridement of involved tissue. All patients had positive intraoperative cultures and were treated with culture-directed long-term intravenous antibiotics. There were no surgical complications or flap loss. All patients had reepithelialization of the donor site by postoperative week 8 and stable soft tissue coverage of the elbow after surgery at final follow-up with full preoperative elbow range of motion. This technique offers a simple, reliable solution for soft tissue coverage of the posterior elbow using excess local tissue for primary closure of posterior elbow wounds with minimal donor-site morbidity.

Concepts: Osteoporosis, Hospital, Surgery, Rheumatoid arthritis, Rheumatology, Tissues, CREST syndrome, Olecranon bursitis


The aim of this study was to validate the 2013 ACR/EULAR classification criteria for systemic sclerosis (SSc) in patients with SSc, including patients with early SSc. Fifty-six consecutive patients with early SSc (2001 LeRoy and Medsger criteria), 122 patients with established SSc (1980 ACR classification criteria), and 141 patients with SSc-like disorders were included in this cross-sectional study. The diagnostic performance of the 2013 ACR/EULAR criteria was compared with the 1980 ACR criteria in several subsets of patients. The performance of individual variables was also obtained. Receiver operating characteristic (ROC) curves and optimal cut-off values were computed. The sensitivity and specificity in the whole cohort of 178 SSc patients were 77.6 and 98.5%, respectively, using the 2013 ACR/EULAR criteria and 68.5 and 100%, respectively, using the 1980 ACR criteria. Twenty-eight percent of the patients with early SSc met the 2013 ACR/EULAR criteria. Among the patients with early SSc, 53% of those who had Raynaud’s phenomenon, abnormal capillaroscopy and positive SSc-related antibodies met the 2013 ACR/EULAR criteria. The area under the ROC curve was 0.975 (95% confidence interval 0.962-0.987). The best cut-off value for the total score was ≥8 (sensitivity 82%; specificity 97.9%). The individual variables with the highest specificity values were proximal skin thickening, sclerodactyly (specificity 100%), telangiectasia and SSc-related antibodies (specificity 98.6%). Raynaud’s phenomenon had the best sensitivity (99.4%) but had low specificity (4.2%). In conclusion, the 2013 ACR/EULAR classification criteria showed high accuracy and increased sensitivity in the classification of patients with early SSc.

Concepts: Sensitivity and specificity, Rheumatology, Receiver operating characteristic, Binary classification, Biostatistics, Scleroderma, CREST syndrome


To investigate Raynaud’s phenomenon (RP) and its impact on daily life activities during 1 year of follow-up in early systemic sclerosis (SSc).

Concepts: Rheumatology, Autoimmune diseases, Scleroderma, Systemic scleroderma, Raynaud's phenomenon, CREST syndrome, Mucinoses


This study aimed to evaluate the hand perfusion scintigraphic features of hand-arm vibration syndrome (HAVS) and to compare these with the features of primary and secondary Raynaud’s phenomenon (RP) associated with systemic sclerosis (SSc).

Concepts: Rheumatology, Autoimmune diseases, Finger, Scleroderma, Systemic scleroderma, Mechanical vibrations, Raynaud's phenomenon, CREST syndrome