How is Epidermolysis Bullosa diagnosed?
Basic information about Epidermolysis BullosaBy doing a skin biopsy (taking a small sample of skin and examining it under a microscope), a dermatologist can identify where the skin separation occurs and what form of EB the person has. One diagnostic test involves use of a microscope and reflected light to see if proteins needed for forming connecting fibrals, filaments or hemidesmosomes are missing or reduced in number.
Related QuestionsWhat is Epidermolysis Bullosa and what does it mean?
Basic information about Epidermolysis BullosaEpidermolysis Bullosa, or EB for short, is the name given to a group of rare genetic blistering skin disorders. EB causes the skin to be so fragile that even minor rubbing can cause blistering. In severe EB, daily bandage changing is required to treat the many open wounds and blisters. EB can also effect other areas such as the eyes and internally such as the mouth, esophagus, stomach, intestines, upper airway, bladder, and genitals. The skin is made up of many layers.
Related QuestionsHow common is Epidermolysis Bullosa?
Basic information about Epidermolysis BullosaOf these, less than 300 have the same form of EB that I was born with. (Recessive Dystrophic - Hallopeau Siemens Epidermolysis Bullosa.) Only one in a million babies are born with the Recessive Dystrophic form of EB (RDEB). I prefer to say I'm one in a million :o)
Related QuestionsWhat causes Epidermolysis Bullosa?
Basic information about Epidermolysis BullosaMost people with EB have inherited the condition through genes they have received from one or both parents. The faulty genes cause structural abnormalities in the skin. Genes govern the formation of different types of protein in the skin, including collagen and keratin. When any of these proteins is bad, the skin becomes so fragile it can literally fall apart.
Related QuestionsHow is Epidermolysis Bullosa inherited?
Basic information about Epidermolysis BullosaSome forms of EB are dominant, some are recessive and some are spontaneous mutations (abnormal changes in a gene that occurred during the formation of the egg or sperm) In dominant forms of EB, the disease gene is inherited from only one parent who has the disease and there is a 50% chance with each pregnancy the baby will have EB. In the recessive forms, the disease gene is inherited from both parents. Neither parent shows signs of the disease, they are just carriers of the EB gene.
Related QuestionsCan Epidermolysis Bullosa be cured or treated?
Basic information about Epidermolysis BullosaThere is currently no cure for EB. At this time the best hope is gene therapy. In 1993 the gene that causes Dystrophic EB was located. That was the first major step. More advances are being made every year giving much hope for the future. Scientists are currently testing the delivery of modified cells to genetically altered mice that have EB traits.
Related QuestionsWhat is the history of Epidermolysis Bullosa?
Basic information about Epidermolysis BullosaIn 1886, Kobner introduced the name epidermolysis bullosa hereditaria to describe a multigeneration affected family with mildly generalized, predominantly acral, serous blistering. This name is still widely used today. During the end of the nineteenth and beginning of the twentieth centuries, other famous dermatologists, including Brocq and Hallopeau, continued to group these patients under such terms as congenital traumatic pemphigus, congenital traumatic blistering, or acantholysis bullosa.
Related QuestionsIs Epidermolysis Bullosa lethal?
Basic information about Epidermolysis BullosaThere are currently only two types of EB that are considered lethal. The first is Junctional Herlitz, which is often deadly to newborns. Junctional Herlitz effects internally, including the airway and other internal organs causing major complications. Many with this form pass away within a few weeks of birth. The other form is RDEB-HS (the kind I have).
Related QuestionsWhere can I go to learn more about Epidermolysis Bullosa?
Basic information about Epidermolysis BullosaThankyou for taking the time to learn about Epidermolysis Bullosa. Please help spread awareness and pass this site onto others. No, not at all, in fact most with EB excel in school. EB children can be mainstreamed into regular classes with the other kids. Some severe forms of EB cause the person/child to look much younger than they actually are, however don't let this fool you! In some forms of EB the skin does get better with age, in some cases dramatically better.
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Related QuestionsHow is SAD diagnosed?
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Related QuestionsHow is Hyperhidrosis diagnosed?
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Related QuestionsHow is anorexia diagnosed?
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Related QuestionsHow is ADHD diagnosed?
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