نتایج جستجو برای: dystrophic epidermolysis bullosa

تعداد نتایج: 6516  

2013
Claudia R. Albornoz Jane Goldstein Geoffrey E. Hespe Virgilio Sacchini Evan Matros

OBJECTIVES Epidermolysis bullosa is a rare skin disorder characterized by blister formation in response to minor trauma as well as extracutaneous manifestations. Details of the surgical history and technical considerations for performing breast reconstruction in a patient with epidermolysis bullosa are discussed. METHOD The history and details of breast reconstruction in a patient with epider...

Journal: :Journal of medical genetics 1995
M G Dunnill C H Rodeck A J Richards D Atherton B D Lake M Petrou R A Eady F M Pope

Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of locus heterogeneity. Several COL7A1 mutations have now been identified in rece...

Journal: : 2023

Background. Epidermolisys bullosa pruriginosa is a rare pattern of dystrophic epidermolisys and characterized by severe itching that accompanies the formation papules, plaques nodes primarily on lower limbs skin imitating prurigo nodularis. Nowadays, less than 100 cases this disease are reported in world, thus, presentation clinical case relevant. Clinical description . The authors describe pru...

Journal: :International wound journal 2014
Elif Sari Tolga Eryilmaz Gulsum Tetik Hulda R Ozakpinar Esabil Eker

Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients. In order to prevent donor-site morbidities due to skin graft ...

Journal: :International wound journal 2014
Kio Park Hajime Nakano Daisuke Sawamura Kenji Kabashima Yoshiki Miyachi

Dear Editors, Dominant dystrophic epidermolysis bullosa (DDEB) is a rare inherited blistering disorder resulting from mutations in the COL7A1 gene. This gene encodes type VII collagen, a major component of anchoring fibrils, at the dermal–epidermal junction. Its clinical features include recurrent blisters that primarily occur on the extremities as well as nail dystrophy. Here, we report a case...

Journal: :The Journal of clinical investigation 2003
Susana Ortiz-Urda Qun Lin Cheryl L Green Douglas R Keene M Peter Marinkovich Paul A Khavari

Current therapeutic strategies for genetic skin disorders rely on the complex process of grafting genetically engineered tissue to recipient wound beds. Because fibroblasts synthesize and secrete extracellular matrix, we explored their utility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due to defective extracellular type VII collagen. Intradermal injection of RDE...

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