What are autoinflammatory diseases? Autoinflammatory diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. The problem causes your immune cells to attack your body by mistake. This can cause swelling that produces fever, rash, joint swelling, or serious buildup of a blood protein in your organs.
What is scoliosis? Scoliosis is a sideways curve of the spine. Children and teens with scoliosis have an abnormal S-shaped or C-shaped curve of the spine. The curve can happen on either side of the spine and in different places in the spine. With treatment, observation, and follow-up with the doctor, most children and teens with scoliosis have normal, active lives.
What is ichthyosis? Ichthyosis is a group of skin disorders. It leads to dry, itchy skin that appears scaly, rough, and red. The symptoms can range from mild to severe. Ichthyosis can affect only the skin, but sometimes the disease can affect internal organs, too.
What is rheumatoid arthritis? Rheumatoid arthritis (RA) is a chronic (long-lasting) disease that mostly affects joints, such as the wrist, hands, feet, spine, knees, and jaw. In joints, RA causes inflammation that leads to: Pain. Swelling Stiffness. Loss of function. Rheumatoid arthritis is an autoimmune disorder because the immune system attacks the healthy joint tissues. Normally, the immune system helps protect the body from infection and disease. RA may cause you to feel unusually tired, to have occasional fevers, and to have a loss of appetite. It also may cause other medical problems in the heart, lungs, blood, nerves, eyes
What is osteopetrosis? Osteopetrosis is a rare disorder that causes bones to grow abnormally and become too dense. When this happens, bones can break easily. In addition, bones may be misshapen and large, causing other problems in the body, such as problems with: Seeing and hearing. Fighting infection. Controlling bleeding. Osteopetrosis is a genetic disease that a child inherits from their parents. The disorder may be mild to severe, and symptoms may show up early after birth or later in adulthood.
What is arthritis? "Arthritis" literally means joint inflammation. Although joint inflammation is a symptom or sign rather than a specific diagnosis, the term arthritis is often used to refer to any disorder that affects the joints. Joints are places where two bones meet, such as your elbow or knee. There are different types of arthritis. In some diseases in which arthritis occurs, other organs, such as your eyes, heart, or skin, can also be affected. Fortunately, current treatments allow most people with arthritis to lead active and productive lives.
What is acne? Acne is a common skin condition that happens when hair follicles under the skin become clogged. Oil and dead skin cells plug the pores, and outbreaks of lesions (often called pimples or zits) can happen. Most often, the outbreaks occur on the face but can also appear on the back, chest, and shoulders. For most people, acne tends to go away by the time they reach their thirties, but some people in their forties and fifties continue to have this skin problem.
What are sports injuries? Sports injuries are injuries that happen when playing sports or exercising. There are two kinds of sports injuries: Acute injuries occur suddenly when playing or exercising. For example: Sprained ankles. Strained backs. Broken bones. Chronic injuries happen after you play a sport or exercise for a long time.
What are sprains and strains? A sprain is an injury to a ligament (tissue that connects two or more bones at a joint). When a sprain happens, one or more ligaments is stretched or torn. A strain is an injury to a muscle or tendon (fibrous cords of tissue that connect muscle to bone). In a strain, a muscle or tendon is stretched or torn.
What is Paget’s disease? Paget’s disease of bone is a chronic (long-lasting) disorder that causes bones to grow larger and become weaker than normal. Usually only one or a few bones have the disease. Many people with Paget’s disease do not have symptoms. However, the bone changes can cause: Bone pain. Misshapen bones. Broken bones (fractures). Problems in the joints near the bones with the disease. With treatment, many people can: Manage their symptoms. Improve pain. Control the effects of the disease.
Same Immune Regulatory Protein Found to Play Instrumental Role in Two Hereditary Autoinflammatory Diseases
Research funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has revealed a new role for A20, a protein that regulates a key immune response pathway, in certain early-onset autoinflammatory diseases. The results suggest that targeting this pathway could be an effective strategy for treating these diseases, and possibly related conditions, as well.