Porphyria Porphyria is a disorder in which the body produces too much of the chemical porphyrin. Porphyrin is used to make heme, the part of blood that carries oxygen. Heme also gives blood its color. Any circulating porphyrin the body doesn't use is excreted in urine and stool. When the body produces and excretes too much porphyrin, as happens with porphyria, not enough heme remains to keep a person healthy.
Porphyria affects either the nervous system or the skin.
When porphyria affects the skin, blisters, itching, swelling, and sensitivity to the sun can result. Unfortunately, its skin symptoms may be severe. Sun exposure may lead to blistering, scarring, and increased hair growth. Affected skin may harbor bacteria, and facial features and fingers may be lost through sun damage and infection. Hepatoerythropoietic porphyria is very rare, and similar to CEP in its symptoms of skin blistering.