Causes and risk factors
Epidermolysis bullosa is an inherited condition. Defect in genes that are responsible for formation skin, causes the disease. Epidermolysis bullosa is seen as a result of injury to the skin. It can be a minor injury, burn, adhesive tape removal, any type of friction such as scratching or rubbing. Skin is made up of epidermis [upper layer] and dermis [middle layer] and hypodermis or subcutaneous tissue [lower layer]. The type of Epidermolysis bullosa depends upon the layer of skin affected. There are 3 kinds of the disease – Epidermolysis bullosa simplex, Junctional Epidermolysis bullosa, dystrophic Epidermolysis bullosa. In Epidermolysis bullosa simplex, the gene responsible for formation of fibrous protein [keratin] is faulty. In junctional Epidermolysis bullosa the genes that form thread-like fibres that attach the epidermis to the basement membrane are defective. In dystrophic Epidermolysis bullosa there is defect in gene that produces collagen which leads to formation of defective layers of skin.
Clinical presentation
The clinical presentation of Epidermolysis bullosa depends upon the type of disease. In Epidermolysis bullosa simplex is a mild and most common type. It causes blistering in epidermis. In junctional Epidermolysis bullosa there is separation and blistering of deeper layers of skin. In dystrophic Epidermolysis bullosa the layers of skin do not join properly. The other types include kindler syndrome which is a mixed type where blisters appear across the skin layers. It causes matting of skin [patches] when exposed to sun. Epidermolysis bullosa acquisita is another type which is an autoimmune disorder causing blisters on hands, feet, mucus membrane. There are blisters around eyes, nose, mouth. Blisters in throat lead to feeding problems. There is presence of milia i.e. tiny pimples on skin. Along with blistering other symptoms of the disease include alopecia [hairloss], nail deformities, tooth decay. The child presents with hoarse cry, cough and breathing problems due to the blisters in the oropharyngeal cavity.
Investigation
Medical history by the patient and Clinical examination by the dermatologist helps in diagnosis. A skin biopsy is recommended. Genetic testing is necessary. Blood tests and blood culture is advised. Imaging studies such as upper GI endoscopy is useful for further evaluation in case of swallowing difficulties.
Treatment
Treatment aims towards preventing the blisters and triggers that lead to blister formation. Dressing, bandaging of affected area is required. Medications like oral steroids, antibiotics are needed. Eating healthy diet to keep skin condition healthy and prevent infection contributes further to the treatment. Immunosuppressants, protein and gene therapy will also help in managing the disease. Blisters in oral cavity, will require liquid diet, feeding tubes for food intake. Surgery may be required in severe cases such as skin grafting; in case of blistering in oesophagus dilatation may be required.
Other Modes of treatment
The other modes of treatment can also be effective in treating Epidermolysis bullosa. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating Epidermolysis bullosa.
Facts and figures
Epidermolysis bullosa affects 1 in 20,000 births. There are about 30000 people suffering from EB in United States.
