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 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 spinal stenosis? Spinal stenosis happens when the spaces in the spine narrow and create pressure on the spinal cord and nerve roots. The spinal cord is a bundle of nerves that comes out of the base of the brain and runs down the center of the spine. The nerve roots branch out from the cord. In spinal stenosis, the narrowing usually occurs over time.
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.
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.
Musculoskeletal conditions like spinal stenosis and anterior cruciate ligament (ACL) tears in the knee affect people of all ages and can be debilitating. Recently reported long-term data from two large-scale studies funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases provide clinically valuable insights into the outcomes associated with treatments for these common, and sometimes costly, orthopaedic problems. Benefits of surgery for spinal stenosis diminish over time Data from the Spine Patient Outcomes Research Trial (SPORT) suggest that patients with severe low back pain caused by common spinal conditions who undergo surgery initially have