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Epidermolysis Bullosa Simplex Kobner

Known as: Epidermolysis Bullosa Simplex, Koebner Type, EB simplex, EBS, GENERALIZED 
 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal dominant inheritanceBullaCockayne-Touraine DiseaseEpidermis
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Broader (3)

Epidermolysis BullosaEpidermolysis Bullosa SimplexSkin Abnormalities

Narrower (1)

Progressive recessive dystrophic epidermolysis bullosa

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Burden of itch in epidermolysis bullosa.
BACKGROUND Itch is an unpleasant feeling that leads to scratching. It is a common, but understudied, problem in patients with… Expand
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2013
2013
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa
BackgroundInherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous… Expand
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Highly Cited
2011
Highly Cited
2011
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
BACKGROUND Epidermolysis bullosa simplex (EBS) is a mechanobullous genodermatosis that may be caused by mutations in the genes… Expand
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2010
2010
Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the… Expand
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Highly Cited
2005
Highly Cited
2005
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB… Expand
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2005
2005
Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size.
BACKGROUND The presence in a family of a child or children with epidermolysis bullosa (EB) may have profound psychological… Expand
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Highly Cited
2004
Highly Cited
2004
Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa.
A standardized questionnaire was used to assess mobility, activity and pain in 140 randomly chosen children, who were… Expand
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Highly Cited
2003
Highly Cited
2003
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and… Expand
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Highly Cited
2002
Highly Cited
2002
Quality of life in epidermolysis bullosa.
The quality of life of people with epidermolysis bullosa (EB) living in Scotland was assessed by postal questionnaire using the… Expand
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2000
2000
The clinical spectrum of epidermolysis bullosa simplex.
As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of… Expand
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