What is pemphigus? Pemphigus is a type of disease where the body’s immune system attacks healthy cells in the top layer of skin (epidermis). It causes blisters on the skin and in the mouth, nose, throat, eyes, and genitals. Some forms of pemphigus can cause death if not treated.
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
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.
Same Immune Regulatory Protein Found to Play Instrumental Role in Two Hereditary Autoinflammatory Diseases
Research funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has revealed a new role for A20, a protein that regulates a key immune response pathway, in certain early-onset autoinflammatory diseases. The results suggest that targeting this pathway could be an effective strategy for treating these diseases, and possibly related conditions, as well.