What are autoinflammatory diseases? Autoinflammatory diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. The problem causes your immune cells to attack your body by mistake. This can cause swelling that produces fever, rash, joint swelling, or serious buildup of a blood protein in your organs.
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 lichen sclerosus? Lichen sclerosus is a long-term problem that usually affects the skin of the genital and anal areas. The disease can also appear on the upper body, breasts, and upper arms. The disease does not cause skin cancer but may increase your risk for cancer if your skin is scarred. You should see your doctor every 6 to 12 months in order to follow and treat skin changes.
What are growth plate injuries? The growth plate is the area of tissue near the ends of long bones in children and teens that determines what length and shape the bone will be once it is done growing. Each long bone— the thigh bone, the bones in the forearm, and the bones in the hands and fingers—has at least two growth plates, one at each end. Once your child has finished growing, the growth plates close and are replaced by solid bone. The growth plates are weak areas of your child’s growing skeleton, making it easier to injure them. Injuries
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 Paget’s disease? Paget’s disease of bone is a chronic (long-lasting) disorder that causes bones to grow larger and become weaker than normal. Usually only one or a few bones have the disease. Many people with Paget’s disease do not have symptoms. However, the bone changes can cause: Bone pain. Misshapen bones. Broken bones (fractures). Problems in the joints near the bones with the disease. With treatment, many people can: Manage their symptoms. Improve pain. Control the effects of the disease.
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.