Common pediatric rheumatic diseases such as juvenile dermatomyositis (JDM) have a complex etiology with a combination of genetic and environmental contributions. Treatments largely are empiric with medications that have broad immunosuppressive and anti-inflammatory effects as well as notable side effects, particularly corticosteroids.
Though corticosteroids are beneficial, the side effects are significant, including Cushingoid features, glucose intolerance, osteoporosis, avascular necrosis, mood changes, increased infection risk, glaucoma and hypertension. A better understanding of the etiology of rheumatic diseases is needed to tailor therapy, thereby increasing efficacy and decreasing adverse effects.
Monogenic autoinflammatory diseases may provide clues to complex conditions such as JDM.
JDM is characterized by proximal skeletal muscle weakness, characteristic rashes (i.e., heliotrope rash around the eyes, Gottron papules at the knuckles) and elevated muscle enzymes. Some individuals with JDM may have autoantibodies.
The incidence of JDM in the U.S. is between 2.5 and 4.1 per million children (Batthish M...