Led by Dr. Michael Ombrello, the unit uses genomic approaches to understand the underlying factors of autoinflammatory and rheumatic diseases.
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 osteoporosis? Osteoporosis is a disease that causes bones to become weak and brittle. This increases your risk of broken bones (fractures). Osteoporosis is a “silent” disease because you may not have symptoms. You may not even know you have the disease until you break a bone. Breaks can occur in any bone but happen most often in: Hip bones. Vertebrae in the spine. Wrist. You can take steps to help prevent osteoporosis and broken bones by: Doing weight-bearing exercises, such as walking or dancing, and lifting weights. Not drinking too much alcohol. Quitting smoking, or not starting if
What is osteonecrosis? Your bones are made up of living cells that need a blood supply to stay healthy. In osteonecrosis, blood flow to part of a bone is reduced. This causes death of bone tissue, and the bone can eventually break down and the joint will collapse. Osteonecrosis can happen to any bone, but most often it develops in the ends of long bones, such as the: Thigh bone. Upper arm bone. Less often, the bones of the elbows, ankles, feet, wrists, and hands are affected. When the disease involves part of a bone in a joint, it can
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.
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 is rosacea? Rosacea (ro-ZAY-she-ah) is a long-term skin condition that causes reddened skin and a rash, usually on the nose and cheeks. It may also cause eye problems.
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.
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