Catalog

Skin fragility - plakoglobin deficiency

No MMS code

Link to WHO Definition

Skin fragility - plakoglobin deficiency – http://id.who.int/icd/entity/1145805364

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.