Abstract
Erythropoietic protoporphyria (EPP) is an uncommon photosensitivity usually produced by an inactivating germline mutation affecting ferrochelatase, the last enzyme in the heme biosynthetic pathway. Free protoporphyrin accumulates in erythrocytes, causing burning and stinging sensations a few minutes after sun exposure. The disease usually becomes apparent in childhood. Many features of EPP are present in X-linked dominant protoporphyria (XLDPP), a disease caused by a gain-of-function mutation in the gene that encodes 5-aminolevulinate …
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