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Porphyria Cutanea Tarda

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Porphyria Cutanea Tarda is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • PCT
  • symptomatic porphyria
  • porphyria cutanea tarda, type II
  • PCT, type II
  • porphyria, hepatocutaneous type
  • uroporphyrinogen decarboxylase deficiency
  • UROD deficiency
  • porphyria, hepatoerythropoietic
  • uroporphyrinogen decarboxylase

Disorder Subdivisions

  • None

General Discussion

Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility of the skin, minor trauma may induce blister formation. Areas of increased and decreased pigment content may be noted on the skin. Blistering of light exposed skin and increased hair growth are also characteristic.

PCT is caused by a deficiency of the uroporphyrinogen decarboxylase (URO-D) enzyme in the liver. The disorder can be acquired or can be caused by an inherited gene mutation in the UROD gene. The inherited form of PCT is also called familial PCT and follows autosomal dominant inheritance. Many individuals with a UROD gene mutation never experience symptoms of the disease.

PCT becomes active and causes symptoms when triggered by an environmental factor that affects liver cells (hepatocytes). These environmental factors include alcohol, estrogens, hepatitis C, and human immunodeficiency viruses (HIV). Individuals who have disorders that lead to excess iron in tissues such as hemochromatosis also have an increased risk of developing PCT. It is usually necessary for an environmental trigger to be present to cause symptoms of either the acquired or inherited type of PCT.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

American Porphyria Foundation
4900 Woodway, Suite 780
Houston, TX 77056-1837
Tel: (713)266-9617
Fax: (713)840-9552
Tel: (866)273-3635
Email: porphyrus@aol.com
Internet: http://www.porphyriafoundation.com

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

MedicAlert Foundation International
2323 Colorado Avenue
Turlock, CA 95382
USA
Tel: (209)669-2401
Fax: (209)669-2456
Tel: (888)633-4298
Email: Inquiries@medicalert.org
Internet: http://www.medicalert.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/19/2008
Copyright  1987, 1988, 1990, 1993, 1994, 1996, 1997, 2005 National Organization for Rare Disorders, Inc.

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