Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that cause the skin to be fragile and blister easily. The severity of EB can range from mild to severe, and in some cases, it can be fatal. There are four main types of EB, each with additional subtypes identified. The types of EB are mainly defined by which layers of the skin separate and form blisters. The most common type is epidermolysis bullosa simplex (EBS), which is dominantly inherited and involves disorders of the genes for Keratins 5 and 14 and plectin. Other types of EB include junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome.

The symptoms of EB can vary depending on the type and severity of the disease. In mild cases, painful blisters may occur on the hands, feet, and other areas of the body. In severe cases, blisters may occur inside the body, such as the lining of the mouth or stomach, and can lead to infections and loss of body fluids. EB can also cause scarring and deformities of the skin and muscles, making it difficult to move fingers, hands, feet, and joints. Some people with EB are at an increased risk of developing a type of skin cancer called squamous cell carcinoma.

EB is caused by a faulty gene that affects a protein used to make collagen, which gives connective tissues, like skin, their strength and structure. The gene mutation can be inherited from one or both parents or can occur by chance. There is no cure for EB, but treatment focuses on managing symptoms and preventing complications. Treatment options may include wound care, pain management, infectio...