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 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.
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 alopecia areata? Alopecia areata is a disease that attacks your hair follicles (the part of your skin that makes hair). In most cases, hair falls out in small, round patches about the size of a quarter. This causes only a few bare patches. Some people may lose more hair. In only a few people, the disease causes total loss of hair on the head or loss of all body hair. Your hair may grow back, even if you lose all of it. But it may fall out again. No one can tell you when it might fall out
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 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