Familial porphyria cutanea tarda

Common Name(s)

Familial porphyria cutanea tarda

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine ({18:Elder et al., 1980}). {14:De Verneuil et al. (1978)} and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I ({176090}), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver ({17:Elder et al., 1978}; {22:Felsher et al., 1982}), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues ({35:Kushner et al., 1976}; {18:Elder et al., 1980}). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene ({613609}) that are responsible for hereditary hemochromatosis ({235200}) (review by {39:Lambrecht et al., 2007}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial porphyria cutanea tarda" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial porphyria cutanea tarda" returned 12 free, full-text research articles on human participants. First 3 results:

Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.
 

Author(s): Carlos Muñoz-Santos, Antonio Guilabert, Nemesio Moreno, Jordi To-Figueras, Celia Badenas, Esteve Darwich, Carmen Herrero

Journal: Medicine (Baltimore). 2010 Mar;89(2):69-74.

 

Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update ...

Last Updated: 2 Jun 2010

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Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
 

Author(s): Aasne K Aarsand, Helge Boman, Sverre Sandberg

Journal: Clin. Chem.. 2009 Apr;55(4):795-803.

 

Porphyria cutanea tarda (PCT) occurs in sporadic (sPCT) and familial (fPCT) forms, which are generally clinically indistinguishable and have traditionally been differentiated by erythrocyte uroporphyrinogen decarboxylase (UROD, EC 4.1.1.37) activity. We used UROD gene sequencing as ...

Last Updated: 27 Mar 2009

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Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda.
 

Author(s): P Harper, Y Floderus, P Holmström, G Eggertsen, M Gåfvels

Journal: J. Intern. Med.. 2004 Jun;255(6):684-8.

 

Last Updated: 18 May 2004

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Reviews from the PubMed Database

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The terms "Familial porphyria cutanea tarda" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda
 

Status: Recruiting

Condition Summary: Porphyria Cutanea Tarda

 

Last Updated: 26 Jan 2011

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