Term Name: Nagashima-type palmoplantar keratosis
Synonyms: NPPK, palmoplantar keratoderma nagashima type, PPKN
Definition: A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.
Ontology: Human Disease [DOID:0070555]   ( DOID:0070555 )

Relationships
is a type of: autosomal recessive disease nonepidermolytic palmoplantar keratoderma