This report describes epidermolysis bullosa simplex, localized (also known as epidermolysis bullosa simplex, Weber-Cockayne type), which is one of several forms of epidermolysis bullosa simplex associated with the human keratin genes KRT14 and KRT5. Information about fly models for this and related diseases can be found in the report 'epidermolysis bullosa simplex, keratin-related' (FBhh0000854).
[updated Jul. 2018 by FlyBase; FBrf0222196]
[EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C](https://omim.org/entry/131800)
[KERATIN 14, TYPE I; KRT14](https://omim.org/entry/148066)
Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005; pubmed:16098032). [from MIM:131800; 2018.07.23]
Localized epidermolysis bullosa simplex (EBS), previously known as Weber-Cockayne EBS, is caused by heterozygous mutation in either the keratin-5 (KRT5) or keratin-14 (KRT14) gene. All 3 forms of EBS (localized, generalized, and generalized severe) can be caused by mutation in the KRT5 or the KRT14 gene. [from MIM:131800; 2018.07.23]
Autosomal recessive forms of EBS have also been described, see MIM:601001 for a recessive form caused by homozygous or compound heterozygous mutation in either the KRT14 or the KRT5 gene. [from MIM:601001; 2018.07.23]
