Epidermolysis bullosa simplex


Epidermolysis bullosa simplex, is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.
Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.

Cause

Absence of keratin-5,14 since birth.

Diagnosis

Classification

Epidermolysis bullosa simplex may be divided into multiple types:
TypeLocus & GeneOMIM
Epidermolysis bullosa simplex with migratory circinate erythema12q13
Epidermolysis bullosa simplex with mottled pigmentation.

Management

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