Erythropoietic Porphyria

**Semantic type:** Disease or Syndrome

**Definition:** A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.

**Synonyms:** - CEP