Epidermolysis bullosa simplex due to BP230 deficiency

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Epidermolysis bullosa simplex due to BP230 deficiency

Synonyms: DST-related epidermolysis bullosa simplex | EBS due to BP230 deficiency

A rare inherited epidermolysis bullosa simplex characterized by mild predominantly acral trauma-induced skin fragility resulting in blisters. Blisters mostly affect the feet including the dorsal side.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Epidermolysis bullosa simplex due to BP230 deficiency?

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