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Pachyonychia Congenita
https://www.niams.nih.gov/health-topics/pachyonychia-congenita
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.
Pemphigus
https://www.niams.nih.gov/health-topics/pemphigus
What is pemphigus? Pemphigus is a type of disease where the body’s immune system attacks healthy cells in the top layer of skin (epidermis). It causes blisters on the skin and in the mouth, nose, throat, eyes, and genitals. Some forms of pemphigus can cause death if not treated.
Scoliosis in Children and Teens
https://www.niams.nih.gov/health-topics/scoliosis
What is scoliosis? Scoliosis is a sideways curve of the spine. Children and teens with scoliosis have an abnormal S-shaped or C-shaped curve of the spine. The curve can happen on either side of the spine and in different places in the spine. With treatment, observation, and follow-up with the doctor, most children and teens with scoliosis have normal, active lives.
Scleroderma
https://www.niams.nih.gov/health-topics/scleroderma
What is scleroderma? Scleroderma is an autoimmune connective tissue and rheumatic disease that causes inflammation in the skin and other areas of the body. This inflammation leads to patches of tight, hard skin. Scleroderma involves many systems in your body. A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage. There are two major types of scleroderma: Localized scleroderma only affects the skin and the structures directly under the skin. Systemic scleroderma, also called systemic sclerosis, affects many systems in the body. This is the more serious type of scleroderma and can damage your blood
Stem Cell-Based Strategies Offer Personalized Approaches For Treating Inherited Skin Disease
https://www.niams.nih.gov/newsroom/spotlight-on-research/stem-cell-based-strategies-offer
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
Epidermolysis Bullosa
https://www.niams.nih.gov/health-topics/epidermolysis-bullosa
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.
Sjögren’s Syndrome
https://www.niams.nih.gov/health-topics/sjogrens-syndrome
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.
Novel Insights Into Causes of Scleroderma Offer Potential New Treatment Strategies
https://www.niams.nih.gov/newsroom/spotlight-on-research/novel-insights-scleroderma
Integrins, a large class of cell surface molecules, play a role in a skin disease called scleroderma, according to research funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases and published in the journal Nature. The study showed that targeting integrins in mice with a form of scleroderma reversed the skin abnormalities associated with the disease. Scleroderma is a potentially life-threatening condition in which previously healthy people develop scarring of the skin, and in some cases damage to blood vessels and internal organs. In most forms of scleroderma, the cause of the disease is
International Team Identifies Biomarker for Scleroderma
A higher level of a small signaling molecule correlates with a more severe form of scleroderma, a chronic autoimmune disorder that involves the abnormal growth of connective tissue, according to a study funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases and published in The New England Journal of Medicine. The findings suggest that the molecule, CXCL4, could be used as a diagnostic marker for the disease and as a therapeutic target. Scleroderma is an autoimmune disease characterized by damage to blood vessels and thickening and scarring of the skin. In some cases, internal