Porphyria cutanea tarda
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| Porphyria cutanea tarda Classification and external resources | |
| ICD-10 | E80.1 |
|---|---|
| ICD-9 | 277.1 |
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Overview
Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
Presentation
When signs and symptoms occur, they usually begin in adulthood and result from the skin becoming overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, scarring, changes in pigmentation, and increased hair growth. Exposed skin becomes fragile and is easily damaged. People with porphyria cutanea tarda also have increased iron levels in the liver. They face a higher risk of developing abnormal liver function and liver cancer.[1]
Causes
In the acquired form, the signs and symptoms of this condition are triggered by nongenetic factors such as alcohol abuse, excess iron, certain hormones, and viral infections. However, in the inherited form of the disease, which affects up to 20% of PCT patients, the condition arises from a mutation in the uroporphyrinogen decarboxylase gene, although environmental and chemical factors may trigger or exacerbate symptoms.
Epidemiology
This type of porphyria occurs in an estimated 1 in 25,000 people, including both inherited and sporadic (noninherited) cases. An estimated 80 % of porphyria cutanea tarda cases are sporadic. The exact frequency is not clear because many people with the condition never experience symptoms.
Genetics
Inherited mutations in the UROD gene cause about 20 % of cases (the other 80 % of cases do not have mutations in UROD, and are classified as sporadic). UROD makes an enzyme called uroporphyrinogen III decarboxylase, which is critical to the chemical process that leads to heme production. The activity of this enzyme is usually reduced by 50 % in all tissues in people with the inherited form of the condition.
Nongenetic factors such as alcohol abuse, excess iron, and others listed above can increase the demand for heme and the enzymes required to make heme. The combination of this increased demand and reduced activity of uroporphyrinogen decarboxylase disrupts heme production and allows byproducts of the process to accumulate in the body, triggering the signs and symptoms of porphyria cutanea tarda.
The HFE gene makes a protein that helps cells regulate the absorption of iron from the digestive tract and into the cells of the body. Certain mutations in the HFE gene cause hemochromatosis (an iron overload disorder). People who have these mutations are also at an increased risk of developing porphyria cutanea tarda.
In the 20% of cases where porphyria cutanea tarda is inherited, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to decrease enzyme activity and cause the signs and symptoms of the disorder.
Treatment
Chloroquine and venesection can be part of a management strategy.[1]
Cultural references
Porphyria Cutanea Tarda is also the name of a song by the punk band AFI on their album Black Sails in the Sunset.
References
Additional Resources
- Kauppinen R (2005). "Porphyrias". Lancet 365 (9455): 241-52. PMID 15652607.
- Lecha M, Herrero C, Ozalla D (2003). "Diagnosis and treatment of the hepatic porphyrias". Dermatol Ther 16 (1): 65-72. PMID 12919129.
- Nordmann Y, Puy H (2002). "Human hereditary hepatic porphyrias". Clin Chim Acta 325 (1-2): 17-37. PMID 12367763.
- Sassa S (2002). "The porphyrias". Photodermatol Photoimmunol Photomed 18 (2): 56-67. PMID 12147038.
- "Porphyria Cutanea Tarda" Porphyria South Africa, University of Cape Town/Groote Schurr Hospital
Vesiculobullous disease |
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| Pemphigus vulgaris, Bullous pemphigoid, Porphyria cutanea tarda, Dermatitis herpetiformis, Bullous lupus erythematosus, Drug reaction |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
