نتایج جستجو برای: dystrophic epidermolysis
تعداد نتایج: 5839 فیلتر نتایج به سال:
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 ...
Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) i...
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...
Peter B Cserhalmi-Friedman, Maria C Garzon, Edwin Guzman, Amalia Martinez-Mir, Wendy K Chung, Kwame Anyane-Yeboa and Angela M Christiano Department of Dermatology, New York, New York, U.S.A. Department of Genetics and Development, New York, New York, U.S.A. Department of Pediatrics, Division of Clinical Genetics, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A...
PURPOSE This study was performed to compare Dental Age (DA) of children with Dystrophic Epidermolysis Bullosa recessiva (DEBr) with the DA of healthy children. METHODS Orthopantomographs (OPG's) of children with DEBr were compared with those of healthy children. Dental maturity was estimated using Dermirjian's method. A total of 48 pairs of OPG's were compared. RESULTS There was a considera...
Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical an...
Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA trans-splicing as an auspicious repair option for mutations located in a wide range of exons by fully converting an RDEB phenotype in an ex vivo pre-clinical...
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