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Epidermolytic palmoplantar keratoderma

Disease definition

A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.

ORPHA:2199

Classification level: Disorder
  • Synonym(s):
    • Diffuse erythrodermic palmoplantar keratoderma, Voerner type
    • Diffuse erythrodermic palmoplantar keratoderma, Vörner type
    • EPPK
    • Epidermolytic palmoplantar keratoderma of Voerner
    • Epidermolytic palmoplantar keratoderma of Vörner
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q82.8
  • ICD-11: EC20.30
  • OMIM: 144200
  • UMLS: C1721006
  • MeSH: D053546
  • GARD: 2826
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Espańol (2020) Français (2020) Nederlands (2020)

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.