Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Inherited EB is a rare disease, with a prevalence of 8.2 per million live births in the United States as of November 2004. Those with mild cases may not develop symptoms until they start to crawl or walk during early childhood. Complications may include esophageal narrowing, squamous cell skin cancer, and the need for amputations. EB is due to a mutation in at least one of 16 different genes. Some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of type VII collagen leads to weakness in the structural architecture of the dermoepidermal junction (DEJ) and mucosal membranes. There are four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and Kindler syndrome. The diagnosis is suspected based on symptoms and confirmed by skin biopsy or genetic testing. There is no cure for the condition. Management involves wound care, pain control, infection control, nutritional support, and the prevention and treatment of complications. About half a million people are affected globally. It occurs equally commonly in males and females.