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Dominant Dystrophic Epidermolysis Bullosa with <i>COL7A1</i> Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis. [PDF]

Mol Syndromol
Feng X, Liu C, Niu W, Hu Y, Zhen Q, Chen W, Wang Y, Li Z, Du J, Guo X, Lv M, Zhang Y, Han Y, Sun L.   +13 more
europepmc   +1 more source

Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus. [PDF]

Orphanet J Rare Dis
El Hachem M, Diociaiuti A, Bonamonte D, Brena M, Lospalluti L, Magnoni C, Neri I, Peris K, Tadini G, Zambruno G, Delphi Study Group.   +10 more
europepmc   +1 more source

Estimated Spending on Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa.

JAMA Dermatol
Raymakers AJN, Kesselheim AS, Mostaghimi A, Feldman WB.   +3 more
europepmc   +1 more source

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Dystrophic Epidermolysis Bullosa

Clinical Pediatrics, 1981
The 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
openaire   +2 more sources

Dystrophic Epidermolysis Bullosa in Goats

Journal of Comparative Pathology, 2013
Clinical, histopathological and ultrastructural findings of caprine dystrophic epidermolysis bullosa (DEB) with autosomal recessive inheritance are reported. The goats presented with exungulation, erosions, crusts and scars on the skin and ulcers in the oral cavity.
Medeiros, G. X., Riet-Correa, F., Barros, S. S., Soares, M. P., Dantas, A. F M, Galiza, G. J N, Simões, S. V D, Borges, Alexandre Secorun   +7 more
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The clinical spectrum of dystrophic epidermolysis bullosa

British Journal of Dermatology, 2002
Dystrophic 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
H M Horn, M J Tidman
exaly   +3 more sources

Recessive Dystrophic Epidermolysis Bullosa

Archives of Ophthalmology, 1987
Recessive 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
openaire   +2 more sources

Nutrition in Dystrophic Epidermolysis Bullosa

Pediatric Dermatology, 1992
Abstract: 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, L, Haynes, P, MacKinnon, D J, Atherton   +3 more
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Dystrophic Epidermolysis Bullosa

2015
Trauma-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, Johann W. Bauer, Helmut Hintner   +2 more
openaire   +1 more source