Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from low levels of the enzyme responsible for the fourth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. Congenital erythropoietic porphyria is a subtype of porphyria. Congenital erythropoietic porphyria causes the skin to be overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, infections, scarring, changes in pigmentation, and increased hair growth. Other signs of the condition include a low number of red blood cells (anemia) and enlargement of the spleen. Signs and symptoms usually begin during infancy (anemia can develop before birth in some cases), but can start in childhood or adulthood. Symptoms that appear in adulthood tend to be milder than symptoms that begin early in life.

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... Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from low levels of the enzyme responsible for the fourth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

Congenital erythropoietic porphyria is a subtype of porphyria.

Congenital erythropoietic porphyria causes the skin to be overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, infections, scarring, changes in pigmentation, and increased hair growth. Other signs of the condition include a low number of red blood cells (anemia) and enlargement of the spleen. Signs and symptoms usually begin during infancy (anemia can develop before birth in some cases), but can start in childhood or adulthood. Symptoms that appear in adulthood tend to be milder than symptoms that begin early in life. ...

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Congenital erythropoietic porphyria
... Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from low levels of the enzyme responsible for the fourth step in heme production. Hem...
Source: Genetics Home Reference

   

Congenital erythropoietic porphyria Articles

  • Congenital erythropoietic porphyria
    ... Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from low levels of the enzyme responsible for the fourth step in heme production. Hem...