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Non-epidermolytic palmoplantar keratoderma

Disease definition

A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.

ORPHA:2337

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
    • Diffuse palmoplantar keratoderma, Bothnian type
    • NEPPK
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: Q82.8
  • OMIM: 600231
  • UMLS: C1833030  C1838359
  • MeSH: -
  • GARD: 1862
  • MedDRA: -
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