Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
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 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 reactive arthritis? Reactive arthritis happens when an infection causes joint pain and swelling. A bacterial infection in the digestive or urinary tract or the genitals usually triggers the condition, but arthritis symptoms typically do not start until a few weeks after you have recovered from the infection. The most common features of reactive arthritis are inflammation of the joints (especially the knees and ankles), eyes, and urinary tract, but not everyone gets all three, or they might not happen at the same time.
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 osteogenesis imperfecta? Osteogenesis imperfecta (OI) is a disease that causes your bones to break (fracture) easily. OI is also called brittle bone disease. Your symptoms may be mild or severe, depending on the type of OI you have.
What is Marfan syndrome? Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including: Bones, ligaments, tendons, and cartilage. Organs, such as the heart and lungs. Skin.
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.