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Definition

A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata.

Acronym

RDEB

Synonyms

Autosomal recessive dystrophic epidermolysis bullosa
EBR1
Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive
Epidermolysis bullosa dystrophica, Hallopeau-Siemens type

Keywords

Epidermolysis bullosa

 
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