Epidermolysis bullosa simplex due to exophilin 5 deficiency

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Name:
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Description:
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.
ORPHAcode:
412189
Synonyms:
EBS due to exophilin 5 deficiency
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14