Epidermolysis bullosa has three major forms and at least 16 subtypes. Epidermolysis bullosa acquisita is characterized clinically by blisters, scars, and milia primarily at the traumaprone areas. Epidermolysis bullosa acquisita is caused by antibodies targeting type vii collagen, the major component of anchoring fibrils that connect the basement membrane to dermal structures. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. The herlitz form of junctional epidermolysis bullosa is a rare variant, usually lethal that is produced by mutations in the genes coding for the anchor protein laminin 5. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. Publications home of jama and the specialty journals of. Dystrophy or anonychia are common to both forms of ddeb.
Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. Epidermolysis bullosa eb is a heterogenous group of genodermatoses characterized by the formation of blisters and erosions on skin and mucous membrans from birth on. It is caused by a variety of mutations in several genes that codify for dermalepidermal junction proteins, which leads to formation of. Epidermolysis bullosa is a group of inherited disorders of the epithelial basement membrane zone, mainly presenting during earl y childhood. It is usually associated to dystrophic epidermolysis bullosa. Junctional epidermolysis bullosapyloric atresia syndrome jebpa is a rare, autosomal recessive disorder characterized by the association of congenital atresia of the gastric antrum or pylorus with bullous disease of the skin and oral mucosa. A consensus approach to wound care in epidermolysis bullosa. Bart syndrome consists of congenital and localized absence of skin, nail abnormalities and mucoccutaneous bullae. It does not provide medical advice, diagnosis or treatment.
Dystrophic epidermolysis bullosa genetics home reference. It consists of blistering of the skin and mucous membranes in response to minimal trauma. Living in a body of open wounds with less than half his. Every effort is made to provide accurate and complete information. Aplasia cutis congenita associated with epidermolysis bullosa. The skin, and in some cases the mucosa, develops blisters andor erosions in response to minimal frictional trauma. Epidermolysis bullosa is a group of rare diseases that cause fragile skin that leads to blisters and tearing.
Get a printable copy pdf file of the complete article 315k, or click on a page image below to browse page by page. Fiftyseven patients with eb were found, 19 with eb simplex, 10 with junctional eb, 27 with dystrophic eb 14 dominant dystrophic and recessive dystrophicand just 1 with kindler syndrome. To our knowledge this is the second case that reports an association between bart syndrome and lethal junctional epidermolysis bullosa and the first in which the results of. This book deals with the treatment of this skin disease itself. Epidermolysis bullosa acquisita eba is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Junctional epidermolysis bullosa is an autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes krt5 and krt14. References epidermolysis bullosa care guideline moss, c. The three major forms are eb simplex, junctional eb, and dystrophic eb. The most important clinical manifestation, is the presence of blisters and vesicles over the skin and the mucous membranes, specially after direct minor trauma and friction. Epidermolysis bullosa simplex, kobner twentythree patients had presented factors that could have had a causal relationship with the potential onset of dc.
Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. These can range in severity from mild blistering to more disfiguring and lifethreatening disease. Download fulltext pdf download fulltext pdf aplasia cutis congenita associated with epidermolysis bullosa article pdf available in cirugia y cirujanos 85 suppl 1 december 2016 with 65 reads. The causes are mutations in the genes of structural proteins of the junction between epidermis and dermis. Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Full text full text is available as a scanned copy of the original print version. Learn more about the symptoms, causes, diagnosis, and treatment of epidermolysis bullosa. Epidermolysis bullosa news home epidermolysis bullosa news. It is caused by a variety of mutations in several genes that codify for dermalepidermal junction proteins, which leads to formation of blisters and skin and mucosal erosions, as well as. Eruptive melanocytic nevi after stevensjohnson syndrome. Inherited epidermolysis bullosa eb is a group of genetically transmitted skin disorders characterized by spontaneous blistering or blistering caused by minor trauma.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Iron supplementation oral or intravenous may be required in some patients. Epidermolysis bullosa news is strictly a news and information website about the disease. Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. They are differentiated by the level of blister cleavage and subdivided according to the pattern of genetic inheritance. The birmingham epidermolysis bullosa severity score. Epidermolysis bullosa acquisita eba is a chronic autoimmune subepidermal blistering disease of the skin and mucus membranes. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Abstract epidermolysis bullosa eb is a term that includes a clinically and genetically heterogeneous group of bleb diseases of low prevalence, whose main characteristic is an extreme fragility of the skin and the mucous membranes. Pdf epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17 000 live. Basic science of epidermolysis bullosa and diagnostic and molecular characterization. Epidermolysis bullosa is a rare and painful skin disorder has no cure.
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