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 bursitis? Bursitis is a common condition that causes swelling and pain around muscles and bones. Bursitis is the swelling of the bursa, a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin.
What is scleroderma? Scleroderma is an autoimmune connective tissue and rheumatic disease that causes inflammation in the skin and other areas of the body. This inflammation leads to patches of tight, hard skin. Scleroderma involves many systems in your body. A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage. There are two major types of scleroderma: Localized scleroderma only affects the skin and the structures directly under the skin. Systemic scleroderma, also called systemic sclerosis, affects many systems in the body. This is the more serious type of scleroderma and can damage your blood
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 osteonecrosis? Your bones are made up of living cells that need a blood supply to stay healthy. In osteonecrosis, blood flow to part of a bone is reduced. This causes death of bone tissue, and the bone can eventually break down and the joint will collapse. Osteonecrosis can happen to any bone, but most often it develops in the ends of long bones, such as the: Thigh bone. Upper arm bone. Less often, the bones of the elbows, ankles, feet, wrists, and hands are affected. When the disease involves part of a bone in a joint, it can
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 fibrous dysplasia? Fibrous dysplasia happens when abnormal fibrous (scar-like) tissue replaces healthy bone. The fibrous tissue weakens the bone over time, which can lead to: Broken bones. Bones that are misshapen (bowed or crooked). The disease can affect any bone in the body. Some people have no symptoms or only a few symptoms. Other people may have more symptoms. Although there is no cure for fibrous dysplasia, treatments may help to lessen pain, and physical therapy may help strengthen muscle and improve movement.
What is Marfan syndrome? Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including: Bones, ligaments, tendons, and cartilage. Organs, such as the heart and lungs. Skin.
What are heritable disorders of connective tissue? There are more than 200 heritable disorders of connective tissue that can affect the tissues between the cells of your body that give tissues form and strength. All of these diseases are directly related to problems in genes that are responsible for building connective tissues. The disorders are called “heritable,” because they are passed on from parent to child. Some heritable disorders of connective tissue change the look and growth of skin, bones, joints, heart, blood vessels, lungs, eyes, and ears. Others change how these tissues work. Many, but not all, are rare
Integrins, a large class of cell surface molecules, play a role in a skin disease called scleroderma, according to research funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases and published in the journal Nature. The study showed that targeting integrins in mice with a form of scleroderma reversed the skin abnormalities associated with the disease. Scleroderma is a potentially life-threatening condition in which previously healthy people develop scarring of the skin, and in some cases damage to blood vessels and internal organs. In most forms of scleroderma, the cause of the disease is
A higher level of a small signaling molecule correlates with a more severe form of scleroderma, a chronic autoimmune disorder that involves the abnormal growth of connective tissue, according to a study funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases and published in The New England Journal of Medicine. The findings suggest that the molecule, CXCL4, could be used as a diagnostic marker for the disease and as a therapeutic target. Scleroderma is an autoimmune disease characterized by damage to blood vessels and thickening and scarring of the skin. In some cases, internal
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.