What €™s This Disease?

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Most common of the porphyrias.

Results from an acquired, substantial deficiency of uroporphyrinogen decarboxylase (UROD) in the liver.

Recognized by blistering and crusted skin lesions on the back of hands and other sun-exposed areas of the body. Other common features include skin fragility, with minor trauma causing blister formation, hypertrichosis, skin hyperpigmentation, and dark or reddish urine.

Factors that contribute to susceptibility include alcohol use, smoking, hepatitis C, HIV, iron overload, hereditary hemochromatosis gene (HFE) mutations, estrogen use, and UROD mutations.

Diagnosis is established by finding substantial increases in porphyrins in urine or plasma.

Treatment includes repeated phlebotomy or low-dose hydroxychloroquine or chloroquine; remission can usually be achieved within 6 months.

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