A form of porphyria in which patients develop liver disease and rashes on parts of their bodies exposed to the sun (e.g., on the knuckles or face). The use of alcohol or estrogens may worsen the condition. The cause is a deficiency of uroporphylinogen decarboxylase.
This condition typically arises in early adulthood. Skin sensitivity to light may be coupled with episodes of abdominal pain and yellowing of the skin and eyes (jaundice). During these attacks, porphyrins are redirected from the stool to the urine, potentially as a result of periods of liver dysfunction.