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 pachyonychia congenita? Pachyonychia congenita (PC) is a very rare genetic disorder that affects the skin and nails. Most people have thickened nails and calluses on the bottom of the feet. Painful calluses on the soles can make walking difficult. Because of the pain, some people rely on a cane, crutches, or a wheelchair to help with walking.
What is Behçet’s disease? Behçet’s disease can affect different parts of your body. If you have the disease, you probably have sores in the mouth or on the genitals (sex organs). More serious symptoms can include swelling, heat, redness, and pain in the eyes and other parts of the body. The disease is named after the doctor who first described it, Dr. Hulusi Behçet.
What is epidermolysis bullosa? Epidermolysis bullosa is a group of rare diseases that cause fragile skin that leads to blisters and tearing. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters may also develop inside the body. The symptoms of the disease usually begin at birth or during infancy and range from mild to severe.
Two new studies funded in part by NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) describe efforts to develop stem cell-based approaches for treating Epidermolysis Bullosa (EB), a rare, genetic skin disease. The findings, which were published jointly in the journal, Science Translational Medicine, may lead to individualized therapies for EB, and possibly other genetic diseases. People with EB have skin that is so fragile that the slightest friction causes blisters. The severity of the disease ranges from limited tearing of skin on the hands and feet to widespread blistering and scarring, including mucosal surfaces like the
A bioengineered molecule designed to bind together key components found in the fluid that surrounds joint areas may improve lubrication and minimize friction. This could potentially slow the degeneration of cartilage tissue that occurs in knee osteoarthritis, according to a study conducted in rats and funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases. The study was published in Nature Materials. The synovial fluid that bathes our joints is composed of several types of lubricants, including hyaluronic acid (HA) and lubricin. In healthy joints, this fluid ensures that tissues move together smoothly and without
Using magnetic resonance imaging (MRI), a team of scientists has detected structural changes in the knee joint that precede signs of osteoarthritis seen on X-rays. The study, which was supported in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), calls into question the assumption that damage to cartilage is the primary underlying cause of osteoarthritis. The findings appeared in the journal Arthritis and Rheumatology.
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.