Epidermolysis bullosa simplex

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex is caused by a suprabasal split in the epidermis. It is regarded to be the most common form of Epidermolysis bullosa (1).

This form tends to present at the onset of mobility, with blisters occuring on the knees and elbows and progressing to the hands and lower legs. There is no scarring.

Inheritance of this form is autosomal dominant and mutations in the proteins keratin 5 (K5) and keratin 14 (K14) has been recognized as the causative factor (2).

There are three major subtypes of Epidermolysis bullosa simplex:

• Dowling-Meara variant of EBS (EBS-DM) - is the severest form, seen in a minority of EBS patients with widespread, herpetiform blistering
• Weber-Cockayne variant of EBS (EBS-WC) - is a milder form, seasonal non-scarring blistering limited to hands and feet can be seen (which is worst in summer months)
• Köbner form of EBS (EBS-K) - seasonal blisters are seen at sites of friction (1)

Reference:

• 1. Ciubotaru D et al. Epidermolysis Bullosa Simplex in Israel. Arch Dermatol. 2003;139:498-505
• 2. Rugg E.L et al. Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations. JID 2007;127: 574-580