Porphyria cutanea tarda in a patient with AIDS.

A 53-yr-old man, known to have had AIDS for 6 months, developed the clinical signs and symptoms of porphyria cutanea tarda (PCT) preceding deterioration of his illness. Urinary porphyrin analysis confirmed the diagnosis of PCT. At the time the cutaneous blistering and scars developed, he was taking zidovudine and fluconazole. Reviewing the literature suggested that association of the two disorders is not purely coincidental. Anaemia, due to chronic immune activation and therapeutic options in the light of AIDS, could play an important role in the development of PCT. We recommend analysing the urine for porphyrins in HIV-positive patients who have chronic photosensitivity of the skin.     

Porphyria cutanea tarda in a patient with post-transplant MDS

We report a case of porphyria cutanea tarda associated with myelodysplastic syndrome in a patient after high-dose chemotherapy and peripheral blood stem cell transplantation for recurrent non-Hodgkin's lymphoma.     

Porphyria cutanea tarda in an HCV-positive liver transplant patient: a case report

Introduction. Porphyria cutanea tarda (PCT) is the most common type of porphyria. The strong association between PCT and hepatitis C virus (HCV) infection is well established. Although antiviral treatment of chronic hepatitis C may improve PCT in some cases, de novo onset of PCT has been observed in patients undergoing peginterferon/ribavirin treatment. We present a rare case of a genotype 3 HCV-positive liver transplant recipient who developed PCT during antiviral treatment and discuss its probable etiopathogenesis.Case presentation. A genotype 3 HCV-positive liver transplant recipient, a 42-year-old man, was treated with peginterferon alfa-2a (180 μg/week) combined with ribavirin (1,200 mg/day) for recurrence of HCV infection after liver transplantation. He presented with hyperferritinemia but tested negative for genetic hemochromatosis (C282Y and H63D mutations). During antiviral therapy, he developed skin lesions on his hands characterized by vesicles and erosions consistent with PCT. PCT was confirmed by skin biopsy and elevated urinary uroporphyrin levels (1,469 mg/24 h). He was treated with chloroquine (200 mg) twice weekly, resulting in gradual regression of the skin lesions. Antiviral treatment was stopped after 48 weeks, and the patient achieved a sustained virological response. In conclusion, we report an extremely rare case of PCT in a genotype 3 HCV-positive liver transplant patient treated with antiviral therapy. We believe that the combination of HCV genotype 3 infection; hemolysis due to ribavirin treatment; and increased plasma levels of cytokines, such as IL-6 and TNFα, could have altered the patient's iron metabolism and thus caused PCT.     

Porphyria cutanea tarda associated with the acquired immune deficiency syndrome

Three male subjects with cutaneous symptoms and biochemical signs typical of porphyria cutanea tarda (PCT) developed acquired immune deficiency syndrome (AIDS). All three were in a classic high risk group for the latter disease and developed a typical progressive illness. Two patients succumbed to opportunistic infections; the third is alive but critically ill. The symptomatic prodrome of AIDS developed concurrently with or followed the onset of symptoms of PCT in all three individuals. PCT and AIDS are both uncommon disorders; their association in three patients is thus of inherent clinical interest. If this association is not coincidental, it raises the possibility that the occurrence of photosensitivity, skin lesions, and evidence of biochemical changes characteristic of PCT may, in certain patients at risk for AIDS, presage the subsequent full clinical expression of the latter disease.     

Porphyria cutanea tarda in a hemodialysed patient with hepatitis C virus infection: efficacy treatment by small repeated phlebotomies

INTRODUCTION: Porphyria cutanea tarda (PCT) is a disorder of heme biosynthesis resulting from deficiency in the enzyme uroporphyrinogen decarboxylase. In the sporadic form of PCT, there are many agents that trigger the clinical manifestations. EXEGESIS: We report a case of PCT in an hemodialysed patient with hepatitis C virus infection (HVC). He was treated with small repeated phlebotomies of 50 ml every week with photoprotection, eviction of traumatismes and inducing drugs. A clinical remission was induced after five months of treatment. CONCLUSION: A proper diagnosis of PCT in non uremic hemodialysed patients requires fractionation of serum and fecal porphyrin changes. Management of this patients is difficult. Small repeated phlebotomies (50-100 ml) could be an interesting therapy.     

Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C

There is a strong association between porphyria cutanea tarda （PCT） and chronic viral hepatitis C. Therapy for chronic viral hepatitis C may improve PCT. However, there are only a few reports of the de novo development of PCT during therapy for chronic viral hepatitis C. We describe the development of PCT in a 56-year-old patient with chronic viral hepatitis C after 12 wk of peginterferon/ribavirin therapy. In addition, the patient was homozygous for the H63D hereditary hemochromatosis gene （HFE） mutation. The association of PCT with chronic viral hepatitis C and the possible role of hepatic iron overload and ribavirin-induced hemolytic anemia in the development of PCT during therapy for chronic viral hepatitis C are discussed.     

Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients.

Porphyria cutanea tarda is the most common disorder of porphyrin metabolism in the United States and Europe. This report presents the clinical, laboratory and pathologic features of 40 patients with porphyria cutanea tarda. Each patient was followed up for variable times during 1960-76 at the Clinical Research Center and the Dermatology Service of the Columbia-Presbyterian Medical Center; at the New York University Medical Center; or at the Rockefeller University Hospital. Earlier age at onset; diminution of alcohol ingestion as the major etiologic factor; and, an increased incidence in females indicate new environmental influences. The most frequently associated etiologic factor, aside from alcohol intake, was use of estrogens for contraception; postmenopausal syndrome; or treatment of prostatic carcinoma. Cutaneous findings in the patients included bullae (85%); increased skin fragility (75%); facial hypertrichosis (63%); hyperpigmentation (55%); sclerodermoid changes (18%); and, dystrophic calcification with ulceration (8%). Diabetes mellitus was found in 15%; systemic lupus erythematosus in 5%; elevated serum iron level in 62%; and, abnormal liver function test results in 60%. Histologic abnormalities were seen in liver biopsies of 34 patients. Phlebotomy is the treatment of choice. In 32 patients so treated, clinical remissions averaged 30.9 months. 31% (10 patients) had a relapse but additional phlebotomies resulted in 2nd remissions. Chloroquine and plasmaphoresis treatments were also briefly discussed.     

Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C

BACKGROUND: Porphyria cutanea tarda (PCT) is sometimes associated with hepatitis C virus chronic infection. The aim of this study was to describe the effect of interferon alfa (IFN-alpha) in the treatment of patients with chronic hepatitis C and PCT. METHODS: We treated a total of 66 patients with chronic hepatitis C with IFN-alpha 2b (5 MU t.i.w.) for 12 months. Twenty-two of these patients suffered from PCT as well. These patients differed from patients without PCT in that they were men, past history of alcohol abuse and HFE gene mutations were more common and the source of infection was almost always unknown. RESULTS: Sustained virologic response was obtained in 19.7% of the 66 treated patients, 27.3% in the non-PCT group and 4.5% in the PCT group (P < 0.05). This difference could not be ascribed to the difference in sex of patients, history of alcohol abuse, HCV genotype or iron status. CONCLUSION: Multivariate logistic regression analysis revealed that PCT is independently and significantly associated with non-sustained response to IFNalpha therapy. In conclusion, patients with chronic hepatitis C and PCT rarely responded to IFNalpha treatment.     

Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection

OBJECTIVE: Porphyria cutanea tarda (PCT) is commonly associated with iron overload and hepatitis C virus (HCV) infection. Association between hemochromatosis C282Y or H63D mutations and PCT has been observed, although not uniformly, and iron overload is also commonly found in chronic HCV hepatitis. The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their relationship with iron overload. METHODS: Twenty-three patients (19 men) aged 39.6 +/- 11.1 yr were studied. All had dermatological lesions of PCT and high levels of urinary uroporphyrin. HCV infection and iron overload were investigated. DNA samples were analyzed for the presence of HFE mutations. RESULTS: The frequency of C282Y was significantly higher in PCT patients than in 278 healthy individuals (17.4% vs 4%, odds ratio = 5.1, 95% confidence interval 1.5-17.6, p = 0.02), whereas no difference was observed regarding the H63D mutation (30.4% vs 31%, odds ratio = 1, 95% confidence interval 0.4-2.4, p = 1). Biochemical tests in PCT patients showed iron overload with transferrin saturation = 47.3 +/- 20.7% and ferritin = 566.8 +/- 425 ng/ml. Fifteen of 23 (65.2%) patients had HCV infection and alcohol ingestion was observed in 17 of 23 (73.9%). CONCLUSIONS: PCT patients exhibited evidence of iron overload, a high frequency of HCV, and an association with C282Y mutation. These data further support the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y may be justified in PCT patients.     

Development of porphyria cutanea tarda in a chronic hepatitis C patient with indetectable viremia under treatment with peg-interferon plus ribavirin

Porphyria cutanea tarda (PCT) is considered an extra-hepatic manifestation of HCV infection. The frequency of this association varies according to different authors and the mechanism by which the virus can trigger this disease is not yet clear. We present a 47-year-old-man with chronic hepatitis C genotype 1b who, during the treatment with peg-interferón alfa 2b plus ribavirina, with no detectable viremia at weeks 12th, 24th, and 48th, developed dermatological photosensitive lesions at week 44th. With a presumptive diagnosis of PCT a cutaneous/skin biopsy was performed as well as a porphyrin dosage with urine porphyirins of 4185 microg/24 hs (nv<250). The chromatographic analysis revealed the typical PCT pattern thus confirming the diagnosis. The hemochromatosis HFE gen evaluation showed heterozigotus character mutations (H63D and C282Y) a frequent association in patients with iron overload and PCT. The antiviral treatment of the HCV infection can improve the clinical-humoral manifestations of PCT. The novo occurrence of PCT was recently reported during chronic hepatitis C treatment with interferón and ribavirin, but no cases of late appearance of PCT in patients with no detectable viremia were reported. The mutation of the gen HFE in our patient and the hemolysis caused by ribavirin can be related to the development of the disease, but the iron overload because of ribavirin use is also controversial. This is another example of the complexity of this association.     

Skin lesion in a patient with acute myeloid leukemia

We present the case of a 51‐year‐old man with acute myeloid leukemia who developed fevers with a skin lesion following the first cycle of induction chemotherapy. Skin biopsy showed evidence of invasive fungal infection. Cultures remained negative, but polymerase chain reaction on tissue detected Rhizopus oryzae complex. The patient was started on liposomal amphotericin B and underwent surgical debridement. He was switched to posaconazole, with plans for allogeneic hematopoetic stem cell transplant in the future.