Erythropoietic Protoporphyria
Erythropoietic Protoporphyria (EPP) is a rare genetic disorder that affects the production of heme, a component of hemoglobin in red blood cells. It is caused by mutations in the FECH gene, leading to the accumulation of protoporphyrin in the body, particularly in the skin. This buildup can result in painful skin reactions when exposed to sunlight.
Individuals with EPP often experience symptoms such as burning, itching, and swelling of the skin after sun exposure. The condition can also lead to complications like liver damage in severe cases. Management typically involves avoiding sunlight and using protective measures to minimize skin reactions.