Erythrokeratodermia Variabilis et Progressiva 1

Alternative Names

  • EKVP1
  • Erythrokeratodermia Variabilis et Progressiva
  • EKVP
  • Erythrokeratodermia Variabilis
  • EKV
  • Erythrokeratodermia, Progressive Symmetric
  • PSEK
  • Erythrokeratodermia Figurata, Congenital Familial, In Plaques
  • Erythrokeratodermia Variabilis with Erythema Gyratum Repens
  • Greither Disease, Included
  • Keratosis Palmoplantaris Transgrediens et Progrediens, Included
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

133200

Mode of Inheritance

Autosomal recessive Autosomal dominant

Gene Map Locus

1p34.3

Description

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses. The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
133200.1Saudi ArabiaMaleNo UrticariaNM_024009.3:c.185A>GHeterozygousAutosomal, DominantMonies et al. 2017
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