A new disease profile is added to our database – Epidermolysis bullosa. Epidermolysis bullosa (EB) is clinically and genetically heterogeneous group of inherited skin disorders characterized by abnormal fragility of the skin and mucous membranes. The disease started at or soon after birth with blisters and erosions. Blisters usually result from minor mechanical trauma but may appear spontaneously. These lesions may result in nonhealing erosions, infection, scarring, and joint contracture. All forms of EB are genetic in origin and the genes responsible for several different sub types of the condition are now known. Others still await identification. The genetic defects result in the skin layers not adhering properly to each other, causing areas of structural weakness. This fragile skin is particularly vulnerable to damage from mild friction, causing the blisters which are the characteristic feature of the condition. Blisters form by cytolysis in the epidermis or basement membrane zone of the skin. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in dermatology – Dr. Ivelina Yordanova, MD, PhD.
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