What is pachyonychia congenita? Pachyonychia congenita is a very rare disorder. It causes thick nails and painful calluses on the bottoms of the feet. In some cases, blisters also form on the palms of the hands.
What is ichthyosis? Ichthyosis is a group of skin disorders. It leads to dry, itchy skin that appears scaly, rough, and red. The symptoms can range from mild to severe. Ichthyosis can affect only the skin, but sometimes the disease can affect internal organs, too.
What is Sjögren’s syndrome? Sjögren’s syndrome is a chronic (long-lasting) disorder that happens when the immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. The main symptoms are dry eyes and mouth, but the disorder may affect other parts of the body. Many people with Sjogren’s syndrome say they feel tired often (fatigue). They also may have joint and muscle pain. In addition, the disease can damage the lungs, kidneys, and nervous system.
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.
What are heritable disorders of connective tissue? There are more than 200 heritable disorders of connective tissue that can affect the tissues between the cells of your body that give tissues form and strength. All of these diseases are directly related to problems in genes that are responsible for building connective tissues. The disorders are called “heritable,” because they are passed on from parent to child. Some heritable disorders of connective tissue change the look and growth of skin, bones, joints, heart, blood vessels, lungs, eyes, and ears. Others change how these tissues work. Many, but not all, are rare
Integrins, a large class of cell surface molecules, play a role in a skin disease called scleroderma, according to research funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases and published in the journal Nature. The study showed that targeting integrins in mice with a form of scleroderma reversed the skin abnormalities associated with the disease. Scleroderma is a potentially life-threatening condition in which previously healthy people develop scarring of the skin, and in some cases damage to blood vessels and internal organs. In most forms of scleroderma, the cause of the disease is
A higher level of a small signaling molecule correlates with a more severe form of scleroderma, a chronic autoimmune disorder that involves the abnormal growth of connective tissue, according to a study funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases and published in The New England Journal of Medicine. The findings suggest that the molecule, CXCL4, could be used as a diagnostic marker for the disease and as a therapeutic target. Scleroderma is an autoimmune disease characterized by damage to blood vessels and thickening and scarring of the skin. In some cases, internal