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Epidermolysis bullosa simplex due to plakophilin deficiency

rare

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.

Identifiers
MONDO:0011472 OMIM:604536Orphanet:158668
Causal genes
PKP1
Part of
Ectodermal dysplasia syndromeSuprabasal epidermolysis bullosa simplex
Also known as
ectodermal dysplasia - skin fragility syndrome · ectodermal dysplasia skin fragility syndrome · ectodermal dysplasia-skin fragility syndrome · McGrath syndrome

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