Herlitz Junctional Epidermolysis Bullosa

Feb 12, 2018 by in Dermatology Comments Off on Herlitz Junctional Epidermolysis Bullosa

Junctional epidermolysis bullosa type Herlitz (JEB-H) is the autosomal recessively inherited, more severe variant of “lucidolytic” JEB. Characterized by generalized, extensive mucocutaneous blistering at birth and early lethality, this devastating…

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Epidermolysis Bullosa Simplex

Feb 12, 2018 by in Dermatology Comments Off on Epidermolysis Bullosa Simplex

The prevalence of epidermolysis bullosa simplex (EBS) is estimated to be approximately 6 to 30 per 1 million live births. The disease is usually caused by missense mutations in KRT5…

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Mutation Mechanisms

Feb 12, 2018 by in Dermatology Comments Off on Mutation Mechanisms

A mutation is an event that produces heritable changes in the DNA. There are many different types of mutations, including point mutations (changes that imply loss, duplication, or alterations of…

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Erratum to “Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex” [Dermatol Clin 28 (2010) 33–41]

Feb 12, 2018 by in Dermatology Comments Off on Erratum to “Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex” [Dermatol Clin 28 (2010) 33–41]

In the January 2010 issue of Dermatologic Clinics (Volume 28, Issue 1), an error appears in the article “Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex” by…

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Epidermolysis Bullosa in the Netherlands

Feb 12, 2018 by in Dermatology Comments Off on Epidermolysis Bullosa in the Netherlands

This article includes a list of resources for patients with epidermolysis bullosa in the Netherlands. Epidermolysis Bullosa Expert Center Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen,…

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Epidermolysis Bullosa Care in Israel

Feb 12, 2018 by in Dermatology Comments Off on Epidermolysis Bullosa Care in Israel

The Israeli population is characterized by unique demographic features including high genetic homogeneity within many closed communities. As a consequence the molecular epidemiology of epidermolysis bullosa differs markedly in this…

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Epidermolysis Bullosa in Japan

Feb 12, 2018 by in Dermatology Comments Off on Epidermolysis Bullosa in Japan

Epidermolysis bullosa (EB) is a group of hereditary disorders characterized by mechanical stress-induced blistering of the skin and mucous membranes. This article discusses the prevalence among and genetic studies of…

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