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Nagashima-type palmoplantar keratosis
Summary
- Synonym
-
- NPPK
- PPKN
- palmoplantar keratoderma nagashima type
- 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.
- Super Class
- autosomal recessive disease nonepidermolytic palmoplantar keratoderma
External Links
- Disease Ontology
- DOID:0070555
- UMLS
- ORDO
Related Genes
