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
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 is gout? Gout is a type of arthritis that causes pain and swelling in your joints, usually as flares that last for a week or two, and then go away. Gout flares often begin in your big toe or a lower limb. Gout happens when high levels of a substance called serum urate build up in your body. When this happens, needle-shaped crystals form in and around the joint. This leads to inflammation and arthritis of the joint. However, many people with high levels of serum urate will not develop gout. With early diagnosis, treatment, and lifestyle changes, gout
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.