نتایج جستجو برای: inherited epidermolysis bullosa
تعداد نتایج: 34966 فیلتر نتایج به سال:
Epidermolysis bullosa is a group of inherited blistering diseases classified into three main sub-groups on the basis of the level of cleavage within the skin. In dominant dystrophic epidermolysis bullosa, characterized by cleavage below the basal lamina, two variants can be distinguished by the presence (Pasini form) or absence (Cockayne-Touraine form) of albo-papuloid lesions. The present stud...
Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. He has mitten-like hands and soft skin blistering on hands...
Epidermolysis bullosa (EB), an inherited disorder presents clinically with recurrent cutaneous blister formation with possible involvement of mucous membranes and other organs. The sequelae of this disease pose multiple challenges to the anaesthetist and operating room team. Recent literature describes several anaesthetic techniques for the short surgical procedures this patient population may ...
A painstaking effort spanning eight years is described in the new book on epidermolysis bullosa by Tobias Gedde-Dahl. The author carefully identified all individuals with this disease in Norway and described in great detail the clinical features of each case. The study is a combined clinical and genetic analysis of 53 probands and 96 of 104 living secondary cases. Of the 46 families, there are ...
Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be ...
how to cite this article: saeed m, haq a, qadir kh.bart’s syndrome associated corpus callosum agenesis and choanal atresia. iran j child neurol. 2014 autumn;8(4): 76-79. abstract objective bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. a newborn with bart’s syndrome is reported because it is a very rare condition, especially when a...
BACKGROUND Generalized atrophic benign epidermolysis bullosa is a form of junctional epidermolysis bullosa characterized by skin fragility; atrophic alopecia; sparse eyebrows, eyelashes, and axillary and pubic hair; dystrophic fingernails and toenails; and enamel defects in decidual and permanent teeth. Substantial progress was recently made elucidating the genetic defects underlying this disor...
A painstaking effort spanning eight years is described in the new book on epidermolysis bullosa by Tobias Gedde-Dahl. The author carefully identified all individuals with this disease in Norway and described in great detail the clinical features of each case. The study is a combined clinical and genetic analysis of 53 probands and 96 of 104 living secondary cases. Of the 46 families, there are ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید