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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
  • ICD-11: EC20.30
  • OMIM: 600231
  • UMLS: -
  • MeSH: -
  • GARD: 1862
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.