Epidermolysis Bullosa also known as E.B. is generally an inherited connective tissue disease. This disease is evident at birth or soon there after. It causes large fluid filled blisters, in the skin and mucosal membranes. Chaffing or even increase in room temperature may cause these blisters to form. E.B. affects an estimated 50 in 1 million live births. The disease has been known to affect every racial and ethnic group and is found in both males and females all over the world. The disease has been seen in a wide variety of forms from mild to lethal form involving some organs. Epidermolysis Bullosa is the result of a mutation in the keratin or collagen gene. There are three layers of skin epidermis, dermis and the subcutaneous layers. Epidermolysis Bullosa affects the top two layers. For those who are not affected by E.B. there are protein anchors that prevent the top two layers from moving without unison or shearing. But those who are affected by E.B. lack the protein anchors that are made of collagen. This is what creates the friction between the layers and this rubbing and pressure causes the painful blisters and sores which have been compared to third degree burns. There are four main types of Epidermolysis Bullosa: Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa simplex, Hemindesmosomal Epidermolysis Bullosa and Junctional Epidermolysis Bullosa. Even within the main types there are many sub types including Epidermis Bullosa Acquisita generally appearing in adults over the age of 50. This specific type is also linked to Cohen’s disease and Lupus.
A doctor may suspect Epidermolysis Bullosa by the appearance of your skin but many tests must be performed on a patient to fully diagnose the disease. Many tests like skin biopsy, genetic testing, special microscopic tests, skin samples, immunoflourescen tests, electrons microscopy, and other blood tests are performed. These are all very important in determining whether or not the patient has Epidermolysis Bullosa or if it is a different skin disease. Knowledge of family history is also key because E.B. is mostly inherited. The inheritance pattern may vary from dominant to recessive. The recessive form (meaning both parents transmit the gene to a child) tends to be worse. Although the dominant form means one parent carries the dominant gene enabling them to pass it on to their child. Diagnosing correctly must also take into account the symptoms. There are many complications that can happen with any one of the varieties of Epidermolysis Bullosa.
The symptoms of a patient with Epidermolysis Bullosa may vary depending on the type of Epidermolysis Bullosa.
The symptoms may include:
Blistering of the skin, how severe depends on the type of Epidermolysis Bullosa.
Deformity or loss of fingernails and toenails
Internal blistering, including in the throat, esophagus, upper airway,...