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.
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 giant cell arteritis? Giant cell arteritis causes the arteries of the scalp and neck to become red, hot, swollen, or painful. The arteries most affected are those in the temples on either side of the head. These arteries narrow, so not enough blood can pass through. It is important that you get treatment right away. Otherwise, the arteries could be permanently damaged. There is also a risk of blindness or stroke. If you have giant cell arteritis, your doctor should also look for signs of another disorder, polymyalgia rheumatica. These conditions often occur together.
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.