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Genetic and Rare Diseases Information Center (GARD)

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Porphyria cutanea tarda


Other Names for this Disease

  • Porphyria, hepatic

Related Diseases

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Overview

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 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.[1]
Last updated: 1/21/2011

References

  1. 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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Basic Information

  • Genetics Home Reference (GHR) contains information on Porphyria cutanea tarda. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Porphyria cutanea tarda. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Porphyria, hepatic
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.