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…
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…
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…
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…
