نتایج جستجو برای: inherited epidermolysis bullosa
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Epidermolysis bullosa is a chronic hereditary disease of unknown aetiology involving the skin and mucous membranes. It is characterized by the formation of multiple superficial vesicles and bullae which develop spontaneously or as a result of minimal trauma. The disease may occur in varying grades of severity but there is one form with distinct characteristics which has been classified as epide...
In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB) types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly higher in the patients than in the controls (p = 0.008, p < 0.001, p < 0.001, p < 0.001 and p < 0.001 for desmoglein 1 (DSG1) desmoglein 3 (DSG3), ...
BACKGROUND Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis is nowadays feasible in all EB subtyp...
Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in a...
Epidermolysis bullosa (EB) is a group of inherited diseases with 4 subtypes. This disorder is a model for fragile skin, with some affected individuals having chronic, difficult-to-heal wounds. The care of wounds in people with EB can be guided by the Wound Bed Preparation paradigm. The treatment of chronic EB wounds is outlined with a quick reference guide of 12 consensus recommendations create...
Many inherited abnormalities of collagen are likely and may be listed under the following headings as proved, probable, or possible. Proved Ehlers-Danlos syndrome (EDS) (types III, IV, V, VI, VII); osteogenesis imperfecta (broadboned type); thanatophoric dwarfism; dermatosparaxis (animal equivalent of EDS VII); blotchy mice (animal equivalent of EDS V). Probable Marfan syndrome; pseudoxanthoma ...
Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immunological ones. The present case described a young male with dystrophic recessive EB who developed an advanced chronic renal damage secondary to tubulointerstitial nephritis that wa...
epidermolysis bullosa (eb) is a group of rare inherited skin and mucous membrane disorders in which blister formation may arise spontaneously or following a minor friction. various patterns of inheritance are explicated for the disease. the disease has a profound effect on oral mucosa and may result in high prevalence of dental caries. general anesthesia is sometimes the only choice for dental ...
BACKGROUND Case reports have suggested that cardiomyopathy may be a complication of recessive dystrophic epidermolysis bullosa (RDEB). OBJECTIVE To determine the risk of congestive heart failure (CHF) or cardiomyopathy in each major EB subtype. METHODS These data represent systematic case findings and data collection performed throughout the continental United States from 1986 through 2002,...
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