Article
Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Oct 2022
Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z
Abstract excerpt
BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by diffuse hyperkeratosis affecting palms and soles with suprabasal epidermolysis or vacuolar degeneration histopathologically. The disorder is caused by heterozygous mutations in KRT9 or KRT1. Dominant-negative mutations in KRT1 could also result in epidermolytic ichthyosis with EPPK, a more severe entity affecting the entire body....
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