epidermolysis bullosa

Epidermolysis bullosa

This is a rare group of mechano-bullous disorders in which a lack of cohesion between certain layers of the skin produces blistering in response to minor trauma (1).

A change in proteins which are responsible for maintaining skin integrity results in formation of bullae (2).

In mild varieties blistering may occur (mainly on hands and feet) only during the summer months in response to the friction of walking. In more severe varieties blistering may begin in utero and the child may be stillborn (2). The condition is inherited and genetic counselling is indicated.

There is no effective treatment.

Major types include:

• junctional
• simplex
• dystrophic (2)

Reference:

• 1. Das B.B, Sahoo S. Dystrophic Epidermolysis Bullosa. Journal of Perinatology 2004;24:41-47
• 2. Uitto J. Epidermolysis Bullosa: The Expanding Mutation Database. JID 2004;123

• epidermolysis bullosa simplex
• dystrophic epidermolysis bullosa
• junctional epidermolysis bullosa

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