Collagen XVII
Collagen XVII has been identified as having a role in inherited junctional epidermolysis bullosa non-Herlitz (JEB-other, MIM #226650). The role of collagen XVII in both autoimmune and genetic blistering disorders…
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…
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…
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…
Role of Dermal-Epidermal Basement Membrane Zone in Skin, Cancer, and Developmental Disorders
The dermal-epidermal basement membrane zone is an important epithelial and stromal interface, consisting of an intricately organized collection of intracellular, transmembrane, and extracellular matrix proteins. The basement membrane zone has…
Erratum to “Nail Involvement in Epidermolysis Bullosa” [Dermatol Clin 28 (2010) 153–157]
In the January 2010 issue of Dermatologic Clinics (Volume 28, Issue 1), an error appears in the article “Involvement in Epidermolysis Bullosa” by Antonella Tosti, Débora Cadore de Farias, and…
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…
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,…
Epidermolysis Bullosa in Australia and New Zealand
This article describes the clinical services for EB in Australia and New Zealand. The history and epidemiology of EB in Australia is described. Current treatment and research achievements are described….
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…
