Porphyria cutanea tarda
Other Names for this Disease
- Porphyria, hepatic
HFE gene which is associated with the disease hemochromatosis, contribute to the development of PCT. PCT is managed with regular phlebotomies or a low dose regimen of hydroxychloroquine as well as removal of factors that activated the disease.Porphyria cutanea tarda (PCT) is the most common type of porphyria with a prevalence of approximately 1 in 10,000. It is characterized by cutaneous blisters that develop on sun-exposed areas of the skin such as the hands and face. The skin in these areas may blister or peel after minor trauma. Increased hair growth, as well as darkening and thickening, of the skin may also occur. Neurological and abdominal symptoms are not characteristic of PCT. Liver function abnormalities are common, but are usually mild. Progression to cirrhosis and even liver cancer occurs in some patients. PCT is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. Excess iron and multiple other susceptibility factors, including alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the
Last updated: 1/21/2011
- Porphyria Cutanea Tarda (PCT). The Porphyrias Consortium. http://rarediseasesnetwork.epi.usf.edu/porphyrias/patients/PCT/index.htm. Accessed 1/21/2011.
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- Genetics Home Reference (GHR) contains information on Porphyria cutanea tarda. This website is maintained by the National Library of Medicine.
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- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
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- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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