Epidermolysis bullosa simplex due to exophilin 5 deficiency

Orpha code: 412189OMIM code: 615028

Definition

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.

Disease data
Classification

Disease

Synonyms
EBS due to exophilin 5 deficiency
EBS due to exophilin 5 deficiency
ORPHA code
412189
OMIM code
615028
ICD10 code
Q81.0
ICD11 code
-

No additional description.

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