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Diseases

Genetic and Rare Diseases Information Center (GARD)

Porphyria cutanea tarda


Other Names for this Disease
  • Porphyria, hepatic
Related Diseases
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Overview

Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer.[1][2] In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. For example, factors such as excess iron, alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene (which is associated with the disease hemochromatosis) can all contribute to the development of PCT.[3][1] Less commonly, PCT can run in families (called familial PCT). Familial PCT is caused by changes (mutations) in the UROD gene and is inherited in an autosomal dominant manner.[4][1] Treatment may include regular phlebotomies (removing a prescribed amount of blood from a vein), certain medications, and/or removal of factors that may trigger the disease.[1][2]
Last updated: 3/8/2016

References

  1. Porphyria Cutanea Tarda. NORD. 2013; http://rarediseases.org/rare-diseases/porphyria-cutanea-tarda/.
  2. Maureen B Poh-Fitzpatrick, MD. Porphyria Cutanea Tarda. Medscape Reference. March 2015; http://emedicine.medscape.com/article/1103643-overview.
  3. Porphyria Cutanea Tarda (PCT). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/PCT. Accessed 3/8/2016.
  4. PORPHYRIA CUTANEA TARDA. OMIM. January 2012; http://www.omim.org/entry/176100?search=PORPHYRIA%20CUTANEA%20TARDA&highlight=cutanea%20porphyria%20tarda.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Porphyria cutanea tarda. This website is maintained by the National Library of Medicine.
  • 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.
  • The American Porphyria Foundation offers an information page on Porphyria cutanea tarda. Please click on the link to access this resource.

In Depth Information

  • Medscape Reference provides information on this topic. 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.