What does porphyria look like?
Sensitivity to the sun and sometimes artificial light, causing burning pain. Sudden painful skin redness (erythema) and swelling (edema. Blisters on exposed skin, usually the hands, arms and face. Fragile thin skin with changes in skin color (pigment)
Is erythropoietic porphyria hereditary?
Causes. Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.
What is erythropoietic protoporphyria symptoms?
The most common symptom of Erythropoietic Protoporphyria is hypersensitivity of the skin to sunlight and some types of artificial light (photosensitivity), with pain, itching, and/or burning of the skin occurring after exposure to sunlight and occasionally to fluorescent light.
How is erythropoietic protoporphyria treated?
In 2019, the Food and Drug Administration (FDA) approved Scenesse (afamelanotide) for the treatment of adult patients with EPP. Scenesse is an injectable implant and works by increasing skin pigmentation which provides protection and improves sun tolerance.
What is erythropoietic organ?
(eh-RITH-roh-poy-EE-sis) The formation of red blood cells in blood-forming tissue. In the early development of a fetus, erythropoiesis takes place in the yolk sac, spleen, and liver. After birth, all erythropoiesis occurs in the bone marrow.
Can erythropoietic protoporphyria be cured?
EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. While there is currently no known cure for EPP, there are ways to manage it.
How can erythropoietic protoporphyria be prevented?
Prevention of phototoxicity in EPP is by avoiding sunlight by using sun protective clothes including long sleeve tops, long pants, hats and sunglasses. Sunscreens containing physical reflecting ingredients can reduce the amount of light penetrating the skin.