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 osteopetrosis? Osteopetrosis is a rare disorder that causes bones to grow abnormally and become too dense. When this happens, bones can break easily. In addition, bones may be misshapen and large, causing other problems in the body, such as problems with: Seeing and hearing. Fighting infection. Controlling bleeding. Osteopetrosis is a genetic disease that a child inherits from their parents. The disorder may be mild to severe, and symptoms may show up early after birth or later in adulthood.
What is epidermolysis bullosa? Epidermolysis bullosa is a group of rare diseases that cause fragile skin that leads to blisters and tearing. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters may also develop inside the body. The symptoms of the disease usually begin at birth or during infancy and range from mild to severe.
Two new studies funded in part by NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) describe efforts to develop stem cell-based approaches for treating Epidermolysis Bullosa (EB), a rare, genetic skin disease. The findings, which were published jointly in the journal, Science Translational Medicine, may lead to individualized therapies for EB, and possibly other genetic diseases. People with EB have skin that is so fragile that the slightest friction causes blisters. The severity of the disease ranges from limited tearing of skin on the hands and feet to widespread blistering and scarring, including mucosal surfaces like the
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 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.
What is Sjögren’s syndrome? Sjögren’s syndrome is a disease that affects the glands that make moisture. It most often causes dryness in the mouth and eyes. It can also lead to dryness in other places that need moisture, such as the nose, throat, and skin. Sjögren’s syndrome is also a rheumatic disease, which affect: Joints. Tendons. Ligaments. Bones. Muscles. The signs and symptoms of rheumatic diseases can include: Redness or heat. Swelling. Pain. Loss of function. Primary Versus Secondary Sjögren’s Syndrome Doctors have two categories for Sjögren’s syndrome: Primary form: Occurs if you do not have other rheumatic diseases. Secondary