نتایج جستجو برای: bullosa
تعداد نتایج: 3547 فیلتر نتایج به سال:
Peter D. Witt, MD; Daniel T. Cohen, BA; Susan B. Mallory, MD; from the Departments of Surgery, Plastic and Reconstructive (Drs Witt and Mr Cohen), Internal Medicine (Dermatology) (Dr Mallory), and Pediatrics (Dr Mallory), Washington University School of Medicine, St Louis Children’s Hospital, and the Department of Plastic and Reconstructive Surgery, Shriners Hospital for Children (Dr Witt), St ...
Epidermolysis bullosa rarely affects lower airways. We present a case of lower airway involvement and stenosis successfully managed with flexible bronchoscopy and balloon dilation.
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...
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP ...
BACKGROUND Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7 −/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations o...
Point mutations in the keratin intermediate filament genes for keratin 5 or keratin 14 are known to cause hereditary skin blistering disorders such as epidermolysis bullosa simplex, in which epidermal keratinocytes are extremely fragile and the skin blisters on mild trauma. We show that in 2 phenotypically diverse cases of epidermolysis bullosa simplex, the keratin mutations result in a thermoi...
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.
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