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 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.
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.