From pathophysiology to novel therapeutic options michael kasperkiewicz1, christian d. Acquired forms of epidermolysis bullosa have been recognized since 1895. Epidermolysis bullosa acquisita is a chronic blistering disease of skin and mucous membranes characterized by subepidermal blisters and tissuebound as well as circulating autoantibodies to the dermal epidermal junction. Eba blisters tend to be localised to areas that are easily injured such as the hands, feet, knees, elbows, and buttocks. Epidermolysis bullosa acquisita a pemphigoid like disease. It is one of the rarest subepidermal bullous conditions in western europe with an incidence of about 0.
Common areas of blistering include the hands, feet, knees, elbows, and buttocks. Epidermolysis bullosa university of kansas medical center. Alternatively, eba can present as an inflammatory bullous. Epidermolysis bullosa eb is the name given to a group of inherited blistering diseases that are present from birth what is epidermolysis bullosa acquisita. In eba the body attacks its own anchoring fibrils collagen fibrils that insert in to the basal lamina of the epidermis and bind it. Epidermolysis bullosa acquisita an overview sciencedirect. Summary background epidermolysis bullosa acquisita eba is a rare pemphigoid disease involving autoantibodies to type vii collagen. Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands what is epidermolysis bullosa simplex. Images in clinical medicine from the new england journal of medicine epidermolysis bullosa acquisita. Previous biopsies performed at an outside facility showed findings consistent with bullous drug eruption and immunobullous disorders. Department of dermatology, university of iowa, va medical center, iowa city, iowa. Treatment of epidermolysis bullosa acquisita eba is difficult, and most treatment regimens are based on anecdotal reports.
Epidermolysis bullosa acquista eba is an acquired, subepidermal bullous disease with clinical features similar to the genetic forms of dystrophic epidermolysis bullosa deb. Epidermolysis bullosa acquisita eba is a rare autoimmune blistering disease in which tense subepithelial blisters appear at sites of trauma. Carver college of medicine department of dermatology 200 hawkins drive 40025 pomerantz family. Epidermolysis bullosa acquisita is characterized clinically by blisters, scars, and milia primarily at the traumaprone areas. Epidermolysis bullosa acquisita eba is an acquired subepithelial blistering disease of the skin and mucous membranes mediated by igg autoantibodies against type vii collagen otoole and woodley, 2000. Epidermolysis bullosa news is strictly a news and information website about the disease. In deb there is a hereditary defect in the gene that encodes type vii collagen c7, the major component of anchoring fibrils. Considering the initial inflammatory pattern and onset in adult age, it is necessary to make differential. It has the same classical progression, including the possibility of milia formation upon healing 1. In eba, certain immune proteins usually igg autoantibodies mistakenly target and attack a specific type of collagen a skin protein involved in anchoring the skin. Epidermolysis bullosa acquisita primary care dermatology. The pathogenic relevance of autoantibodies targeting type vii collagen col7 has been welldocumented. Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type vii collagen. Oct 05, 2011 epidermolysis bullosa acquisita eba was described for a century ago by ellliot.
Epidermolysis bullosa acquisita eba is a rare immunobullous condition in which patients may have chronic acquired, traumainduced, subepidermal blistering, or a clinical picture similar to bullous pemphigoid. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes krt5 and krt14. Acantholysis bullosa, acanthosis bullosa, bullosa hereditaria, dominant and recessive epidermolysis bullosa, dowlingmeara syndrome, epidermolysis bullosa acquisita, epidermolysis bullosa hereditaria, epidermolysis bullosa letalias, epidermolysis bullosa letalis, epidermolysis bullosa simplex, epidermolysis hereditaria tarda, goldscheiders disease, hallopeausiemens disease, heinrichsbauer. Epidermolysis bullosa acquisita eba is a chronic autoimmune subepidermal bullous disease with clinical features similar to the genetic form of dystrophic epidermolysis bullosa. Epidermolysis bullosa acquisita medigoo medical tests. Mar 03, 2014 symptoms of epidermolysis bullosa acquisita eba usually occur in a persons 30s or 40s. Epidermolysis bullosa acquisita is caused by antibodies targeting type vii collagen, the major component of anchoring fibrils that connect the basement membrane to.
Epidermolysis bullosa eb is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. Epidermolysis bullosa acquisita eba this type of epidermolysis bullosa is a rare type of disease that usually presents as an obtained form of mechanobullous disorder. This leads to pain, discomfort, and sometimes fatal complications. In eba the body attacks its own anchoring fibrils collagen fibrils that insert. Epidermal bullosa acquisita department of dermatology. Pediatric inflammatory epidermolysis bullosa acquisita in. Epidermolysis bullosa acquisita is a rare, acquired, autoimmune subepidermal blistering disease of the skin, characterised by blisters and erosions, especially in traumaprone sites and extensor. Jan 30, 2015 epidermolysis bullosa acquisita eba is a rare subepidermal autoimmune bullous disease aibd characterized by immune deposits on anchoring fibrils afs of cutaneous and mucosal basement membrane zones bmz. This is a mechanobullous subepidermal autoimmune blistering disorder that usually begins in adulthood. Inflammatory epidermolysis bullosa acquisita eba is a rare clinical variation of eba with acute onset of erythemaurticaria and vesiclebullous lesions with marked pruritus 1.
Unlike eb, eba is not inherited and usually presents in adult life. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. Epidermolysis bullosa eb is a rare disorder that causes the skin and sometimes surfaces inside the body like the intestines to break and blister easily. Epidermolysis bullosa acquista eba is an acquired, subepidermal bullous disease with. This report describes the first case of one such disease, epidermolysis bullosa acquisita, to be documented in. Therefore, eba is a prototypical autoimmune disease with a wellcharacterized pathogenic relevance of autoantibody binding to the target antigen. Epidermolysis bullosa acquisita definition nci a chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. Since then, refinements in reagents and immunological techniques have allowed diseases which are histologically similar but which have a different molecular pathogenesis to be described. Epidermolysis bullosa treatment epidermolysis bullosa news. Epidermolysis bullosa acquisita genetic and rare diseases. Epidermolysis bullosa acquisita eba is an orphan autoimmune disease.
Epidermolysis bullosa acquisita eba is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Noninflammatory or mildly inflammatory eba affecting only traumaprone skin the classic form may cause. This report describes the first case of one such disease, epidermolysis bullosa acquisita, to be documented in the uk. Therefore, there is a failure in keratinisation, which affects the integrity and the ability of the skin to resist mechanical stresses. Clinical presentation, pathogenesis, diagnosis, and. Epidermolysis bullosa acquisita medical definition merriam.
Mucosal morbidity in patients with epidermolysis bullosa. Epidermolysis bullosa acquisita eba was described for a century ago by ellliot. Treatment is with corticosteroids, dapsone, and meticulous skin care. Inflammatory epidermolysis bullosa acquisita effectively treated. Inherited epidermolysis bullosa eb encompasses over 30 phenotypically or genotypically distinct entities which share as a common feature mechanical fragility of epithelial lined or surfaced tissues, most notably the skin. Emerging treatment for epidermolysis bullosa acquisita. Epidermolysis bullosa acquisita is a rare, acquired, chronic condition characterized by subepidermal blistering. It does not provide medical advice, diagnosis or treatment. Epidermolysis bullosa acquisita what is epidermolysis bullosa acquisita eba. The disease is rare, with an estimated annual incidence of 0. Carver college of medicine department of dermatology 200 hawkins drive 40025 pomerantz family pavilion iowa city, ia 522421089. Epidermolysis bullosa acquisita in a great dane hill.
Eba can occur at any age but more frequently affects elderly persons. Epidermolysis bullosa acquisita eba is a rare subepidermal autoimmune bullous disease aibd characterized by immune deposits on anchoring fibrils afs of cutaneous and mucosal basement membrane zones bmz. Mar 05, 2019 epidermolysis bullosa acquisita eba is a chronic autoimmune subepidermal blistering disease of the skin and mucus membranes. Eba is characterized by the presence of autoantibodies against type vii collagen which is a major component of the anchoring fibrils at the dermalepidermal junction. Epidermolysis bullosa acquisita is an acquired chronic blistering disease of the skin, in which separation of the skin occurs in the basementmembrane zone between the epidermis and the dermis. Bullous pemphigoid mimicking epidermolysis bullosa acquisita liza gill, md case. The exact etiology of epidermolysis bullosa acquisita is not known, but data suggest it involves autoimmune antibodies directed against type vii collagen, a key component of the anchoring fibrils within the dermalepithelial junction. Epidermolysis bullosa is a rare and painful skin disorder has no cure. Patients with epidermolysis bullosa acquisita eba should have a negative family and personal history of blistering disorders in order to make the diagnosis. This is a pdf file of an unedited manuscript that has been. Epidermolysis bullosa acquisita eba is a rare, sporadic, subepithelial, mucocutaneous blistering disease that usually develops in adulthood. Epidermolysis bullosa acquisita eba is a rare, acquired, chronic subepidermal bullous disease of the skin and mucosa characterized by autoantibodies to type vii collagen c7 structures, a major.
This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Ludwig1,2 epidermolysis bullosa acquisita eba is a prototypic. Epidermolysis bullosa acquisita medical definition. The early published cases 14 were diagnosed by the clinical appearance of. The stiff blisters develop at sites of trauma which are vulnerable to injury such as the hands, elbows, knees, feet, and buttocks. Read medical definition of eba epidermolysis bullosa acquisita. Broad serologic screening is recommended unless a specific immunobullous skin disease type is suspected. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset. Eba is a rare blistering disease which produces deep, tense blisters on the skin and mucosal surfaces mouth, genitals, nose and eyes which typically heal with scarring. The underlying cause of epidermolysis bullosa acquisita eba is not known. Epidermolysis bullosa acquisita in a great dane hill 2007. Lesions occur predominantly on areas of trauma and often heal with scarring, like cp. Epidermolysis bullosa acquisita eba is a chronic autoimmune subepidermal blistering disease of the skin and mucus membranes.
Successful treatment of refractory epidermolysis bullosa. The epidermolysis bullosa disease activity and scarring. Clinical presentation, pathogenesis, diagnosis, and treatment. Learn more about the symptoms, causes, diagnosis, and treatment of epidermolysis bullosa. Systemic corticosteroids have been the mainstay of therapy for severe or extensive disease but impose an increased risk for postoperative complications including surgical site infections. A characteristic feature of all types of eb is the presence of recurrent blistering or erosions, the result of even minor traction to these tissues.
Pdf epidermolysis bullosa acquisita associated with. Epidermolysis bullosa acquisita eba is an autoimmune subepidermal bullous disorder of the skin and mucous membranes. A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of. Razzaque ahmed, mdb boston, massachusetts epidermolysis bullosa acquisita eba is a rare, chronic, subepidermal, mucocutaneous blistering disease characterized by skin fragility and spontaneous as well as traumainduced blisters that heal with scar formation and milia. Four patients with documented epidermolysis bullosa acquisita were evaluated by a multidisciplinary team of care providers 4 dermatologists, an ophthalmologist, a radiologist, a voice and speech specialist, and an otolaryngologist for 1 to 5 years to characterize mucosal involvement and its complications and response to treatment. Epidermolysis bullosa acquisita is an acquired autoimmune bullous disease characterized by tense blisters arising on inflamed or normal appearing skin at traumaexposed sites. Dec 21, 2018 home medterms medical dictionary az list eba epidermolysis bullosa acquisita definition medical definition of eba epidermolysis bullosa acquisita medical author. Diagnosis is by skin biopsy and direct immunofluorescence. Order concurrently with perilesional skin biopsy for direct immunofluorescence for initial. Epidermolysis bullosa acquisita eba is a rare, chronic autoimmune blistering disease.
Dec 21, 2018 home medterms medical dictionary az list epidermolysis bullosa acquisita definition medical definition of epidermolysis bullosa acquisita medical author. Epidermolysis bullosa acquisita panel university of utah. Epidermolysis bullosa acquisita can occur in all ages. Epidermolysis bullosa acquisita eba is an autoim mune mechanobullous disease that is clinically charac terised by blisters and erosions on. The target for epidermolysis bullosa acquisita autoantibodies is type vii collagen localized to anchoring fibrils just. It is due to circulating autoantibodies ab directed to type vii collagen c7. Epidermolysis bullosa acquisita kim 20 journal of the. Medical definition of epidermolysis bullosa acquisita. Epidermolysis bullosa an overview sciencedirect topics.
Epidermolysis bullosa eb is the name given to a group of inherited blistering diseases that are present from birth. Epidermolysis bullosa acquisita clinical presentation. Clinical presentation, pathogenesis, diagnosis, and treatment of. Feb 27, 2014 epidermolysis bullosa acquisita eba is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Epidermolysis bullosa acquisita dermatologic disorders. Click on the image or right click to open the source website in a new browser window. Manz3, enno schmidt1,2, detlef zillikens1,2 and ralf j. Inherited epidermolysis bullosa orphanet journal of rare. Epidermolysis bullosa acquisita eba is an autoimmune blistering disease that is mediated by antibodies against collagen vii, which is the major component of the anchoring fibrils in the lamina densa of the basement membrane.
Unlike eb, eba is not inherited and usually presents in adult. Epidermolysis bullosa acquisita description, causes and risk factors. Current treatment options rely on nonspecific immunosuppression, which in many cases, does not lead to a remission of treatment. Epidermolysis bullosa pictures, treatment, life expectancy. Epidermolysis bullosa acquisita is a subepidermal blistering disease associated with predominantly igg autoantibodies that bind the dermal side of saltsplit skin. Mayuzumi m, akiyama m, nishie w, ukae s, abe m, sawamura d, hashimoto t, shimizu h. Familial epidermolysis bullosa acquisita megan h noe 1, mei chen phd 2, david t woodley md 2, janet a fairley md 3 dermatology online journal 14 12. Read medical definition of epidermolysis bullosa acquisita. Indirect immunofluorescence is positive in about 50% of cases. 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 acquisita is a chronic subepidermal blistering disease associated with autoimmunity to type vii collagen within anchoring fibril structures that are located at the dermoepidermal junction. These images are a random sampling from a bing search on the term epidermolysis bullosa acquisita. Ludwig1,2 epidermolysis bullosa acquisita eba is a prototypic organspeci. Four scoring systems have been proposed as potential outcome measures for eb, including the japanese indices, 1 the birmingham eb severity bebs score, 2 the instrument for scoring clinical outcome of research for epidermolysis bullosa iscoreb 3 and the epidermolysis bullosa disease activity and scarring index ebdasi.
Pdf epidermolysis bullosa acquisita associated with psoriasis. Eba is classically described as a mechanobullous disorder characterized by skin fragility, noninflammatory tense bullae, milia, and scarring. Of all the clinical types of epidermolysis bullosa, only epider molysis bullosa acquisita eba. Department of dermatology, university of iowa, iowa city, iowa 2. Epidermolysis bullosa acquisita eba is a rare, immunobullous disease, characterized by circulating and tissuebound antibodies against type vii collagen c7 of anchoring fibrils in the.
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