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.
What is vitiligo? Vitiligo is a chronic (long-lasting) disorder that causes areas of skin to lose color. When skin cells that make color are attacked and destroyed, the skin turns a milky-white color. No one knows what causes vitiligo, but it may be an autoimmune disease. In people with autoimmune diseases, the immune cells attack the body’s own healthy tissues by mistake, instead of viruses or bacteria. A person with vitiligo sometimes may have family members who also have the disease. There is no cure for vitiligo, but treatment may help skin tone appear more even.
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.
Altering a key protein involved in the development of vitiligo may protect against—or even reverse—the pigmentation loss associated with the skin disorder in mice, according to recent research funded by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases, and published in the journal Science Translational Medicine. Vitiligo is a progressive autoimmune disease in which the skin cells that impart color (melanocytes) are destroyed, resulting in white patches on the face, hands and other parts of the body. Scientists are unsure what causes vitiligo. They are investigating the biological mechanisms that trigger the disease, as well as its
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