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Journal of Investigative Dermatology, 2023 Dystrophic epidermolysis bullosa is a rare genetic skin disorder caused by COL7A1 sequence variations that result in type VII collagen deficits and cutaneous and extracutaneous manifestations.
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Dystrophic Epidermolysis Bullosa
Clinical Pediatrics, 1981The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant variants, the Cockayne-Touraine and Pasini forms. Whereas all three forms are clinically characterized by milia, nail dystrophy, and scarring, the autosomal recessive form tends to be the most mutilating .with frequent mucosal lesions ...
C G, Burkhart, E S, Ruppert
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The clinical spectrum of dystrophic epidermolysis bullosa
British Journal of Dermatology, 2002Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type VII collagen. The site and specific nature of the underlying mutation determine the clinical phenotype, which ranges widely from a severe mutilating condition to a relatively mild disorder.To document the clinical spectrum of DEB within
M J Tidman
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Recessive Dystrophic Epidermolysis Bullosa
Archives of Ophthalmology, 1987Recessive epidermolysis bullosa dystrophica (REBD), a bullous disorder of the skin and mucous membranes, is frequently associated with ocular complications. A 40-year-old woman presented with lid ulcerations, chronic conjunctivitis, diffuse subepithelial corneal scarring, corneal ulceration, and cataracts.
M, Destro, I H, Wallow, F S, Brightbill
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Nutrition in Dystrophic Epidermolysis Bullosa
Pediatric Dermatology, 1992Abstract: In dystrophic epidermolysis bultosa (EB), a combination of diminished food intake and Increased nutritional requirements commonly leads to mainourishment Adequate nutrition in these patterns could pro‐vide many benefits, including Improved growth, accelerated healing, de‐creased susceptibility to infection, and enhanced well‐being.
S, Allman +3 more
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Dystrophic Epidermolysis Bullosa in Assaf Lambs
Journal of Comparative Pathology, 2011Dystrophic epidermolysis bullosa (DEB) was diagnosed in five newborn Assaf lambs from a flock in which around 1-2% of the lambs were lame. Affected animals had marked erythema of the coronary band and subsequent detachment of the hooves. Blisters were present on the lips and in the oral and oesophageal mucosae.
Pérez Pérez, Valentín +5 more
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Dystrophic Epidermolysis Bullosa
2015Trauma-induced subepidermal blistering with milia formation, atrophic scarring, and dystrophic nail involvement are cutaneous hallmarks of dystrophic EB (DEB). Severe clinical phenotypes are further complicated by mutilating pseudosyndactyly of hands and feet with contractures and progressive disablement.
Martin Laimer +2 more
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Fatal cardiomyopathy in dystrophic epidermolysis bullosa
British Journal of Dermatology, 1996Two unrelated children with autosomal recessive dystrophic epidermolysis bullosa (RDEB) developed fatal dilated cardiomyopathy. Both were malnourished and had severe growth problems. We believe that the most likely cause for the cardiomyopathy is a micronutrient deficiency, most probably selenium deficiency, since the serum selenium level was found to ...
C, Melville +4 more
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Dystrophic epidermolysis bullosa.
British Journal of Dermatology, 1977Involvement of the large intestine in a long standing case of dystrophic epidermolysis bullosa was characterized by recurrent episodes of diarrhoea synchronizing with exacerbation of the skin lesions. The radiological investigations revealed two narrow segments, one each in the descending and transverse colon, with ulcer craters in the lower part of ...
V N, Sehgal +3 more
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