Erythropoietic protoporphyria and x-linked protoporphyria

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Erythropoietic protoporphyria and X-linked protoporphyria are conditions related to deficiencies of enzymes involved in the production of heme and characterized by sensitivity to sunlight.

The heme precursor protoporphyrin accumulates in the bone marrow, red blood cells, and other tissues, including skin.
People have severe skin pain and swelling soon after exposure to sunlight.
Doctors test blood to look for elevated levels of protoporphyrin.
People should avoid exposure to sunlight.
Sometimes, beta-carotene can help protect the skin.

(See also Overview of Porphyria.)
Accumulation of protoporphyrin in the skin results in extreme sensitivity to sunlight and severe pain soon after exposure. The sunlight activates the protoporphyrin molecules, which damage the surrounding tissue.
Accumulation of protoporphyrins in the liver can cause liver damage. Protoporphyrins excreted in the bile can often lead to gallstones.