Epidermolysis bullosa simplex due to exophilin 5 deficiency

Orpha code: 412189OMIM code: 615028

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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