Nagashima-type palmoplantar keratosis

Term ID

DOID:0070555

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. (3)

References

• MIM:615598
• ORDO:140966
• UMLS_CUI:C3810072

Ontology

Human Disease   ( DOID:0070555 )