Autosomal Recessive Epidermolysis Bullosa of the Albopapuloid Type
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چکیده
منابع مشابه
Three Brothers with Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. In the most severe, dystrophic (scarring) forms of EB, blisters form below the cutaneous basement membrane at the level of the anchoring fibrils, which are composed of type VII c...
متن کاملA case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa.
Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects ...
متن کاملPotential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering disorder caused by mutations in the COL7A1 gene that lead to reduced type-VII collagen and defective anchoring fibrils at the dermal-epidermal junction (DEJ). Presently there are no effective treatments for this disorder. Recent mouse studies have shown that intradermal injections of normal human fibroblasts...
متن کاملSomatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.
angiofibromas.4 Successful treatment of nonangiofibroma cutaneous manifestations of TSC has been sparse. To our knowledge, topical rapamycin has not been used successfully to treat the ungual fibromas of TSC. In our case, the use of topical rapamycin was well tolerated and resulted in the resolution of subungual tumors and rapid normalization of the overlying nail distortion. The pathogenesis o...
متن کاملGenetic Linkage of Recessive Dystrophic Epidermolysis Bullosa to the Type VIl Collagen Gene
Generalized mutilating recessive dystrophic epidermolysis bullosa (RDEB) is characterized by extreme skin fragility owing to loss of dermal-epidermal adherence. Immunohistochemical studies have implicated type VII collagen, the major component of anchoring fibrils, in the etiology ofRDEB. In this study, we demonstrate genetic linkage of the type VII collagen gene and the generalized mutilating ...
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ژورنال
عنوان ژورنال: Dermatology
سال: 1986
ISSN: 1018-8665,1421-9832
DOI: 10.1159/000249210