Epidermolysis bullosa simplex due to exophilin 5 deficiency

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Synonyms: EBS due to exophilin 5 deficiency

A rare inherited epidermolysis bullosa simplex characterized by mild generalized trauma-induced scale crusts and intermittent blistering sometimes combined with erosions recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.

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 July 2024

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Epidermolysis bullosa simplex due to exophilin 5 deficiency?

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