Interstitial lung disease in systemic sclerosis: data from the spanish scleroderma study group.

OBJECTIVES: To evaluate the clinical characteristics of patients with interstitial lung disease (ILD) in the setting of a large cohort of systemic sclerosis (SSc) patients, and to analyse the differences according to the SSc subtype (following the modification of classification criteria of the American College of Rheumatology for SSc proposed by LeRoy and Medsger), factors are associated with moderate-to-severe impairment of lung function, as well as mortality and causes of death. METHODS: A descriptive study was performed, using the available data from the Spanish Scleroderma Study Group. RESULTS: Twenty-one referral centers participated in the registry. By April 2014, 1374 patients with SSc had been enrolled, and 595 of whom (43%) had ILD: 316 (53%) with limited cutaneous SSc (lcSSc), 240 (40%) with diffuse cutaneous SSc (dcSSc), and 39 (7%) with SSc sine scleroderma (ssSSc). ILD in the lcSSc and the ssSSc subsets tended to develop later, and showed a less impaired forced vital capacity (FVC) and a ground glass pattern on high-resolution computed tomography (HRCT) less frequently, compared with the dcSSc subset. Factors related to an FVC < 70% of predicted in the multivariate analysis were: dcSSc, positivity to anti-topoisomerase I antibodies, a ground glass pattern on HCRT, an active nailfold capillaroscopy pattern, lower DLco, older age at symptoms onset, and longer time between symptoms onset and ILD diagnosis. Finally, SSc-associated mortality and ILD-related mortality were highest in dcSSc patients, whereas that related to pulmonary arterial hypertension was highest in those with lcSSc-associated ILD. CONCLUSIONS: Our study indicates that ILD constitutes a remarkable complication of SSc with significant morbidity and mortality, which should be borne in mind in all three subgroups (lcSSc, dcSSc, and ssSSc).

CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).

Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. These common anomalies are illustrated with figures from two personal cases. Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with other overgrowth syndromes, such as Proteus or Klippel-Trenaunay (K-T) syndromes, and for the therapeutic management of the different anomalies. In this context, a new entity comprising different syndromes with phenotypic mutations in PIK3CA has been proposed, designated PIK3CA-related overgrowth spectrum (PROS), with the aim of facilitating clinical management and establishing appropriate genetic study criteria.

Rituximab in the treatment of dermatomyositis and other inflammatory myopathies. A report of 4 cases and review of the literature.

OBJECTIVE: Rituximab is an anti-CD20 monoclonal antibody targeting B cells, which has been used with success in a wide variety of autoimmune diseases. The experience with this drug in patients with inflammatory myopathies (IM), nonetheless, is still limited. We review the literature and highlight several aspects in relation to therapy with rituximab in IM. METHODS: We performed a research in the MEDLINE DATABASE. All cases identified from the literature research and cases diagnosed in our Unit were included in the analysis. RESULTS: We identified 49 patients with IM treated with rituximab in the review of the literature carried out (31 female; 18 male), including our patients. Dermatomyositis (DM) was the most common disorder for which rituximab treatment was administered (69.4%). The other diseases treated included polymyositis (PM) 16.3%, antisynthetase syndrome (AS) 8.2%, one case with anti-SRP-syndrome and other with juvenile dermatomyositis. The median time to diagnosis was 48 (0.75-480) months. Sixty-five per cent (65.3%) of patients presented with skin manifestations, 89.8% with muscle weakness, 7.3% with arthritis, 16.3% with interstitial lung disease, and 7.3% with cardiomyopathy. Seventy-one (71.4%) of the patients received only one course of rituximab, 18.4% two courses, 4.1% three, 2% four and only 4.1% five. We have observed both among our patients and those reported in the literature a high rate of response to rituximab, 75% of our patients and 72.5% of those described in the literature showed a good response. The median time free of symptoms between two courses was 12 (6-19) months. Rituximab was generally well tolerated by all patients, with no serious adverse events. Most of the adverse events reported were mainly infections, particularly respiratory tract infections. CONCLUSIONS: It is our belief that rituximab may be an optimal therapeutic choice for inflammatory myopathies. Nevertheless, there is a need for additional studies in order to assess the optimal regimen of treatment in the different subsets, as well as the initial dose, combination of treatments and re-treatment schedule.

Superficial basal cell carcinoma treated with imiquimod 5% topical cream for a 4-week period: a case series.

Basal cell carcinoma (BCC) is a malignant cutaneous neoplasm with a tendency to spread locally and with several clinical and histological subsets. We studied 82 patients with a clinical diagnosis of superficial BCC on different anatomical locations, to whom imiquimod 5% cream was administered on a low-frequency regime (three times a week for 4 weeks), and who were followed up 2 years after completion of treatment. Clinical clearance rate at 1 and 2 years were 89% and 85%, respectively. We conclude that imiquimod seems to be an appropriate therapeutic alternative for the treatment of superficial BCC in patients with associated comorbidities.

Effect of rituximab on refractory Wegener granulomatosis with predominant granulomatous disease.

Wegener granulomatosis is an autoimmune disorder with a double spectrum. Vasculitic manifestations are at one end of it, whereas granulomatous ones are at the other. Rituximab (RTX) is a chimeric monoclonal antibody that has been successfully used in this condition. However, the granulomatous forms have been reported to show a tendency to be less responsive to RTX than the vasculitic disease. We present 4 cases of predominantly Wegener granulomatosis that responded positively to RTX.