Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:317

Erythrokeratodermia variabilis

Also called EKV, Erythrokeratodermia variabilis, Mendes da Costa type

Body system
Skin diseases
Inheritance pattern
Autosomal dominant, Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:317 is classified under "Skin diseases" in the Orphanet nomenclature.

Common signs

  • Microcephaly
  • Hyperkeratosis
  • Skin rash
  • Cutaneous photosensitivity
  • Hypermelanotic macule
  • Weight loss