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Congenital Erythropoietic Porphyria

Background

Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. The inheritance of 2 mutant alleles for the gene encoding the enzyme uroporphyrinogen III synthase leads to accumulation of porphyrins of the isomer I type that are biologically useless but cause cutaneous photosensitivity characterized by blisters, erosions, and scarring of light-exposed skin.

Clinical manifestations can range from mild to severe. Chronic damage of skin, cartilage, and bones can cause mutilation. Hypertrichosis, erythrodontia, and reddish-colored urine are often present. Hemolytic anemia can be mild or severe, with resultant splenomegaly and osseous fragility.

The following is a selection of other porphyria-related articles:

Erythropoietic Protoporphyria

Porphyria Cutanea Tarda

Pseudoporphyria

Variegate Porphyria

Also see the figure below.

Clinical classification of porphyrias.

Clinical classification of porphyrias.

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