Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency (Q106954): Difference between revisions

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Latest revision as of 13:57, 17 August 2026

This autosomal recessive basal subtype of epidermolysis bullosa simplex (EBS-AR exophilin 5) is due to an absence of exophilin 5 in basal keratinocytes resulting from mutations in the EXOH5 gene. It is characterised by generalised blistering and crusting with mild mottled pigmentary changes.

Language	Label	Description	Also known as
default for all languages	ID_1267488538
English	Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency	This autosomal recessive basal subtype of epidermolysis bullosa simplex (EBS-AR exophilin 5) is due to an absence of exophilin 5 in basal keratinocytes resulting from mutations in the EXOH5 gene. It is characterised by generalised blistering and crusting with mild mottled pigmentary changes.