Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding

keratin 5 Keratin 5, also known as KRT5, K5, or CK5, is a protein that is encoded in humans by the ''KRT5'' gene. It protein dimer, dimerizes with keratin 14 and forms the intermediate filaments (IF) that make up the cytoskeleton of Stratum basale, basal ...

keratin 14 Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded ...

.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.

Signs and symptoms

EBS causes blister formation at the dermal-epidermal junction. The skin blisters easily, even from very minor friction and rubbing.

Cause

Epidermolysis bullosa simplex is caused by genetic mutations that prevent the proper formation of protein structures in the skin’s epidermis. The proteins of the outer epidermis do not bond properly with those of the inner dermis layer (dermal-epidermal junction). The affected genes, KRT5 and the KRT14, which are responsible for the creation of keratin 5 and keratin 14 proteins respectively, are tied to the four major types of epidermolysis bullosa simplex. However, a small number of epidermolysis bullosa simplex patients do not have mutations in their KRT5 and KRT14 genes. Mutations in the PLEC gene are also being researched, specifically in the gene’s role in the Ogna form of epidermolysis bullosa simplex. The PLEC gene is responsible for the formation of plectin, another skin protein that attaches the epidermis to the skin’s deeper layers.

Diagnosis

Classification

Epidermolysis bullosa simplex may be divided into multiple types:

Management

* No cure for EB * Treat symptoms * Protect skin, stop blister formation, promote healing * Prevent complications * Necessary treatment: use oral and topical steroid for healing and prevent complication * Maintain cool environment, avoid overheating and decreases friction

References

External links

{{Cytoskeletal defects Genodermatoses Rare diseases Cytoskeletal defects