Skin fragility - plakoglobin deficiency (Q99248): Difference between revisions

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Latest revision as of 15:55, 16 August 2026

A rare autosomal recessive skin fragility syndrome due to mutations in the JUP gene which encodes plakoglobin, a protein essential for epidermal integrity. It presents with widespread erosions, sparse woolly hair, nail dystrophy and focal palmoplantar keratoderma.

Language	Label	Description	Also known as
default for all languages	ID_1145805364
English	Skin fragility - plakoglobin deficiency	A rare autosomal recessive skin fragility syndrome due to mutations in the JUP gene which encodes plakoglobin, a protein essential for epidermal integrity. It presents with widespread erosions, sparse woolly hair, nail dystrophy and focal palmoplantar keratoderma.