Epidermolytic palmoplantar keratoderma

Orpha code: 2199OMIM code: 144200

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.

Disease data
Classification

Disease

Synonyms
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Epidermolityczny rogowiec dłoni i stóp Voerner
Epidermolityczny rogowiec dłoni i stóp Vörnera
EPPK
Rozlany erytrodermalny rogowiec dłoni i stóp, typu Voernera
Rozlany erytrodermalny rogowiec dłoni i stóp, typu Vörnera
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
EPPK
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
ORPHA code
2199
OMIM code
144200
ICD10 code
Q82.8
ICD11 code
EC20.30

No additional description.

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