Raynaud’s phenomenon in scleroderma or systemic sclerosis (SSc) is associated with significant discomfort and functional disability, especially in the presence of digital ulcers.1 Having lived with diffuse systemic sclerosis (dSSc) for nearly a decade, I can attest to this. It has been my experience that the hand pain and dysfunction in dSSc stems from Raynaud’s…
Tubulointerstitial nephritis and uveitis (TINU) syndrome, also known as Dobrin syndrome, is a rare oculo-renal inflammatory disease. It was first described in 1975 by American physician Robert Dobrin, MD.1 It manifests as acute interstitial nephritis and bilateral uveitis. In addition, patients often experience nonspecific systemic findings, such as fever, weight loss, malaise, myalgia and arthralgia. TINU…
Systemic sclerosis (SSc) is a disease characterized by immunologic abnormalities, microvascular involvement and tissue fibrosis. In previous studies, 10-year survival rates ranged from 50–84%. However, there are concerns that these studies, using prevalent cohorts, are underestimating mortality. “While the prognosis of many rheumatic diseases has improved with the availability of more effective and targeted therapies,…
NEW YORK (Reuters Health)—Tocilizumab should be the “first choice” for treatment of the autoinflammatory and cutaneous manifestations of pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome, say clinicians from the U.K. PHID syndrome is an extremely rare autosomal recessive genetic disease caused by mutations in the SLC29A3 gene. Children with the syndrome develop patches…
New research examines the role of factor Xa in the pathology of antiphospholipid syndrome (APS) and systemic lupus erythematosus-associated APS. Researchers found that FXa stimulation was mediated by protease-activated receptors and enhanced by IgG from FXa reactive antibody positive patients, which may make IgG FXa reactivity a novel biomarker for future research…
Interest in viewing the nail capillaries dates to the late 17th century. Later research by Maurice Raynaud and others in the late 19th and early 20th century first established a direct link between the nailfold capillaries and certain medical conditions. Although underutilized in the past, with the advent of modern digital equipment and the validation…
MADRID—Research into pharmacodynamic biomarkers has shown that macrophages may have an important role in the pathogenesis of several diseases, including systemic sclerosis, an expert said at the 2017 Annual European Congress on Rheumatology (EULAR). The findings were discussed in a session that also covered how an understanding of M1 macrophages’ role in fibrosis has evolved…
After having had juvenile idiopathic arthritis (JIA) for 20 years, I had a moment in my journey when I realized something new: “Your arthritis doesn’t just affect you, you know,” my sister said. This statement stopped me in my achy tracks. For two decades, I had been operating under the assumption that JIA was my…
A 51-year-old Caucasian female was referred by a local rheumatologist to the Center of Autoinflammatory Diseases at Stony Brook University, N.Y., for an unusual disease presentation. The patient had had recurrent polyarthritis, fever and rash for the previous three years. She described having a migratory polyarthritis affecting the shoulders, knees, ankles and bilateral forefoot, with…
Systemic sclerosis (SSc), a subtype of scleroderma, is a rare, complex autoimmune disease characterized by widespread vasculopathy of the small arteries and fibroblast dysfunction.1,2 It has been described as a fibrosing microvascular disease, because vascular injury precedes and leads to tissue fibrosis.3 The resulting Raynaud’s phenomenon, pain, skin thickening and tightening, and multi-organ involvement have…