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Erythropoietic protoporphyria and X-linked protoporphyria

Sahil Mittal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Moise L Levy, MD
Deputy Editor
Jennifer S Tirnauer, MD


Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by painful, non-blistering photosensitivity usually first noted in early childhood and occurring acutely after sunlight exposure but leaving little residual skin damage. The cutaneous phenotype can result from altered activity of one of two enzymes in the heme biosynthetic pathway, either a deficiency of ferrochelatase (FECH), which causes EPP; or a gain-of-function mutation of the erythroid-specific form of delta-aminolevulinic acid synthase (ALAS2), which causes X-linked protoporphyria (XLP). An acquired, adult-onset form of EPP has also been described, in which a clone of cells with mutated FECH expands in the setting of a myeloproliferative or myelodysplastic syndrome. The term "protoporphyria" includes both EPP and XLP.

The pathogenesis, clinical features, and treatment of EPP and XLP will be discussed here.

Other cutaneous porphyrias, as well as a general overview, are presented separately:

Overview – (See "Porphyrias: An overview".)

PCT and HEP diagnosis – (See "Porphyria cutanea tarda and hepatoerythropoietic porphyria: Clinical manifestations and diagnosis".)

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Literature review current through: Nov 2017. | This topic last updated: Apr 03, 2017.
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