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Epidermolysis Bullosa Pruriginosa

Known as: DEB, PRURIGINOSA, DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA 
National Institutes of Health

Related topics

Related topics

9 relations
Autosomal dominant inheritanceAutosomal recessive inheritanceCicatrix, HypertrophicDystrophia unguium

Broader (1)

Epidermolysis Bullosa Dystrophica

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Review of thalidomide use in the pediatric population.
2012
2012
Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant… 
2011
2011
Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus.
BACKGROUND Epidermolysis bullosa pruriginosa is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by… 
2010
2010
Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
Epidermolysis bullosa pruriginosa (EBP; OMIM #604129) is an unusual variant of autosomal dominant (or occasionally recessive… 
2009
2009
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene…
Epidermolysis bullosa (EB) pruriginosa is an unusual variant of dystrophic EB in which intense itching can lead to striking skin… 
Review
2009
Review
2009
A novel de novo splice‐site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa
We report a Japanese infant who had a novel de novo splice‐site mutation in the COL7A1 gene, which resulted in in‐frame exon 87… 
2002
2002
A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.
Dystrophic epidermolysis bullosa pruriginosa, a subtype of epidermolysis bullosa dystrophica and a heterogeneous inherited… 
2000
2000
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa
Abstract Dystrophic epidermolysis bullosa (DEB), caused by mutations in the gene encoding type VII collagen (COL7A1), is known to… 
Highly Cited
1999
Highly Cited
1999
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations… 
1997
1997
Epidermolysis bullosa pruriginosa.
Epidermolysis bullosa (EB) pruriginosa is a rare clinical subset of dystrophic EB, characterized by marked itching and presence… 
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