• Source: Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.: 598  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




See also


Epidermolysis bullosa
List of cutaneous conditions caused by mutations in keratins




References






Further reading



GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex




External links

Kata Kunci Pencarian:

• Siproheptadin
• Epidermolysis bullosa
• Epidermolysis bullosa simplex
• Epidermolysis bullosa dystrophica
• Keratin 5
• Lichen simplex chronicus
• Dermatofibroma
• List of diseases (E)
• Genodermatosis
• Bullous pemphigoid
• Folliculitis