Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:79278

Autosomal erythropoietic protoporphyria

Also called EPP

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Europe)
Rarity class
<1 / 1 000 000

ORPHA:79278 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Pruritus
  • Cutaneous photosensitivity
  • Abnormal circulating porphyrin concentration
  • Erythema
  • Eczematoid dermatitis
  • Edema