The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

Méndez, Manuel; Rossetti, María Victoria; Batlle, Alcira; Parera, Victoria Estela

doi:10.1016/j.jaad.2004.09.014

Cited by 35 publications

(18 citation statements)

References 42 publications

(39 reference statements)

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“…It is generally admitted that patient with erythrocytic activity lower than half of the value in controls have a partially inherited defect in UROD, and should be classified as having familial PCT [35]. It would therefore be interesting to study UROD gene mutations, as the results might be discordant between enzymatic and molecular analysis [1].…”

Section: Discussionmentioning

confidence: 99%

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Cribier¹,

Chiavérini²,

Dali‐Youcef³

et al. 2008

Dermatology

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Background: Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed. Objective: In order toexamine the links between these factors, we conducted a multicentre prospective case-control study. Methods: PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV– controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR. Results: PCT+/HCV+ patients were younger than PCT+/HCV– patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV– patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls. Conclusion: In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.

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Section: Discussionmentioning

confidence: 99%

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Cribier¹,

Chiavérini²,

Dali‐Youcef³

et al. 2008

Dermatology

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“…Many predisposing factors have been associated with the clinical manifestation of PCT. Amongst them well recognized are: alcohol abuse, oestrogen replacement therapy, iron overload, haemodialysis, viral infections (hepatitis C, hepatitis B, HIV virus), exposure to polychlorinated hydrocarbons and inherited mutations in the HFE gene concerning classic haemochromatosis 2–4 . Beta thalassaemia major (TM) is a clinical entity with a wide spectrum of clinical manifestations as a result of life‐long transfusion‐dependent anaemia.…”

Section: Clinical Characteristics Of Enrolled Patientsmentioning

confidence: 99%

Porphyria cutanea tarda and beta‐thalassaemia major: causal or casual?

Papadantonakis

Neofotistou

Vasiliadi

et al. 2010

Acad Dermatol Venereol

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EditorPorphyria cutanea tarda (PCT) is the most common type of porphyria worldwide and is classified in three categories: sporadic type I, familial type II and the extremely rare type III. 1 Many predisposing factors have been associated with the clinical manifestation of PCT. Amongst them well recognized are: alcohol abuse, oestrogen replacement therapy, iron overload, haemodialysis, viral infections (hepatitis C, hepatitis B, HIV virus), exposure to polychlorinated hydrocarbons and inherited mutations in the HFE gene concerning classic haemochromatosis. 2-4 Beta thalassaemia major (TM) is a clinical entity with a wide spectrum of clinical manifestations as a result of life-long transfusion-dependent anaemia. Interestingly, patients suffering TM manifest several of PCT's predisposing factors as a result of their underlying disease ª

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“…Porphyria cutanea tarda (PCT) is the most common porphyria with a prevalence ranging from 1:5,000 to 1:25,000 [18]; while in Argentina it is 1:36,000 [19]. The disease usually occurs in adult life and it is characterized by skin photosensitivity with blistering on sunexposed areas, skin fragility, hyperpigmentation, and hyperthricosis [20].…”

Section: Introductionmentioning

confidence: 99%

“…There is also a form of familial PCT called type III, in which a family history of PCT is observed, but subnormal URO-D activity is restricted to the liver [22]. The clinical manifestation of PCT is frequently associated with exposure to precipitating agents, including polyhalogenated aromatic hydrocarbons, alcohol abuse, estrogen ingestion, iron overload, hepatitis C virus (HCV) and HIV infection and less frequently, hepatitis B virus (HBV) [19,[23][24][25]. Data from Argentina reported a very high incidence of PCT-HIV association, showing 1:10 prevalence of HIV in our PCT patients [26].…”

Section: Introductionmentioning

confidence: 99%

Identification of CYP3A5 and CYP2B6 Polymorphisms in Porphyria Cutanea Tarda Associated to Human Immunodeficiency Virus

Lavandera¹

2014

J Clin Exp Dermatol Res

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The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

Cited by 35 publications

References 42 publications

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Porphyria cutanea tarda and beta‐thalassaemia major: causal or casual?

Identification of CYP3A5 and CYP2B6 Polymorphisms in Porphyria Cutanea Tarda Associated to Human Immunodeficiency Virus

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