Porphyria cutanea tarda and hepatitis C virus infection

We studied the prevalence of hepatitis C virus (HCV) infection in 20 Japanese patients with sporadic-type porphyria cutanea tarda (PCT). Seventeen of the 20 patients (85%) had anti-HCV antibodies. Biochemical remission was observed in nine patients, six of whom still had positive HCV RNA copies. These results suggest that HCV infection is a triggering factor for PCT in Japan. However, continuous HCV infection seems to exert little influence on the maintenance of abnormal porphyrin metabolism. Hepatocellular carcinoma (HCC) developed in five of the 17 HCV-positive patients, three of whose PCT was in remission. Four of these patients showed chronic active hepatitis or cirrhosis on liver biopsy. PCT patients with HCV infection should be followed up long-term because of the possibility of HCC. To evaluate the risk of HCC, liver biopsy may be required, even when the patient is in biochemical remission.     

Porphyria cutanea tarda and antibodies to hepatitis C virus

We have studied the prevalence of hepatitis C virus antibodies (anti-HCV) in 13 patients suffering from sporadic porphyria cutanea tarda. The sera were tested by Abbott second-generation enzyme immunoassay; seropositivity was confirmed by Ortho second-generation recombinant immunoblot assay. Ten cases (76.1%) were anti-HCV positive; one patient was also seropositive for HIV. This preliminary study suggests that HCV could be a frequent triggering factor for sporadic porphyria cutanea tarda.     

Porphyria cutanea tarda.

Porphyria cutanea tarda (PCT) is the most frequent form of porphyria. The underlying enzymatic defect in PCT is a reduced activity of the enzyme uroporphyrinogen decarboxylase (Uro-D). Four different types of Uro-D disturbances are known. Pseudoporphyrias such as porphyria cutanea uraemica or drug-induced PCT-like skin symptoms are distinguished from PCT. Porphyrinogens such as estrogens or alcohol, or other inducers of P450 isoenzymes provoke PCT. Polymorphisms of P450 isoenzymes, iron overload and infection with hepatitis C virus play an important role in the etiopathogenesis of disease manifestation. Dominant clinical symptoms are bullae, increased cutaneous vulnerability, hypertrichosis and elastosis. Biochemically, total porphyrin levels in urine are increased with a predominance of uroporphyrin and heptacarboxylic porphyrin. Isocoproporphyrin is demonstrable in feces. Best therapeutic strategies are the oral administration of chloroquine 125 mg twice a week and repetitive bloodlettings or the combination of both.     

Porphyria cutanea tarda, hepatitis C, alcoholism, and hemochromatosis: a case report and review of the literature

Porphyria cutanea tarda (PCT) is associated with estrogen, certain medications, alcohol abuse, hepatitis viruses, and iron overload. Numerous studies have demonstrated an increased incidence of hepatitis C in patients with PCT; therefore, hepatitis screening should be routinely performed on these patients. On the other hand, although studies have long suspected hereditary hemochromatosis (HH) to be an underlying condition of PCT, many physicians have a low index of suspicion. Also, diagnosis of HH has been difficult until recently, when the gene mutation was identified. We present a case of a patient with PCT, hepatitis C, and alcoholism who was homozygous for the HH gene mutation.     

迟发性皮肤卟啉症一例

患者,男,23岁。面颈部及双手背红斑、水疱、破溃2年,光敏感性和皮肤脆性增加,摩擦后加重。家族中无类似病史。血卟啉阴性;尿卟啉阳性;抗核抗体阴性。通过直接测序的方法对患者UROD基因10个外显子进行测序,未发现有害致病突变。组织病理示表皮下水疱形成,真皮上部血管内及血管壁周围糖蛋白沉积。诊断迟发性皮肤卟啉症,给予羟氯喹200 mg每日两次。     

Porphyria cutanea tarda and AIDS

Two male patients, each of whom had one or more risk factors for human immunodeficiency virus, subsequently developed findings of porphyria cutanea tarda preceding diagnosis of acquired immune deficiency syndrome (AIDS).     

Porphyria cutanea tarda and sarcoidosis

A case of porphyria cutanea tarda and sarcoidosis involving the lungs and liver is described. This appears to he the second case showing such an association reported in the English literature. The relationship between the two conditions and their response to prednisolone is discussed.     

Porphyria cutanea tarda,dermatomyositis and non-Hodgkin lymphoma in virus C infection

Virus C infection has been associated with a broad spectrum of extrahepatic diseases such as essential mixed cryoglobulinemia, membranous glomerulonephritis, vasculitis, rheumatoid arthritis and lupus erythematosus. The etiologic role of virus C has also been observed in some neoplasms such as non-Hodgkin's lymphoma and the monoclonal gammapathies. Many studies also support the link between this virus and porphyria cutanea tarda (PCT). Isolated cases suggest a relationship with dermatomyositis. Herein, we report the coexistence of PCT, non-Hodgkin's lymphoma and dermatomyositis in the same patient affected with virus C infection which has never previously been described.     

Porphyria cutanea tarda and porphyria variegata unmasked by viral hepatitis

We present two patients–one with porphyria cutanea tarda (PCT) and one with porphyria variegata (PV)–whose clinical manifestations of porphyria first appeared during attacks of hepatitis.     

Porphyria cutanea tarda in a haemodialysed patient

A bullous dermatosis, that arose about 2 years after the beginning of haemodialysis treatment, was due to a genuine hereditary porphyria cutanea tarda (PCT). The plasma porphyrins were extraordinarily high. Neither the residual renal function nor the haemodialysis—using different techniques and different materials-succeeded in reducing the plasma porphyrin levels to that usually found in PCT. The serious and rapid evolution of the cutaneous lesions towards a scleroderma-like state might have been due to this high level of plasma porphyrins and to their passage into the tissues. The clearance of porphyrins is compared with that of 162 subjects affected by PCT. The porphyrin content in the plasma of seventy-five non-porphyric subjects undergoing maintenance dialysis was also studied.     

Porphyria cutanea tarda and Sjogren's syndrome

Porphyria cutanea tarda is prevalent in connective tissue disease, common insystemic lupus erythematosus. However, the co-existence of primary sjogren''ssyndrome and porphyria cutanea tarda is rare and poses diagnostic andtherapeutic challenges. We report a case of porphyria cutanea tarda associatedwith primary sjogren''s syndrome.     

Porphyria cutanea tarda and peptic ulcer

A high incidence of peptic ulcer was found in a retrospective study of 199 Bulgarians with porphyria cutanea tarda. Ulcers were found in 35 patients (17.59%), while its incidence in Bulgaria varies between 2.52 and 3.7%. The site of the ulcer was duodenal in 29 porphyriacs, gastric in three, both duodenal and gastric in two and pyloric in one. The pattern of localization was similar to that seen in the general population. Peptic ulcers became symptomatic before the appearance of porphyria in 30 cases. Six (17.1%) of the patients had perforations, while the frequency of this complication in the general population was 1.7-8.5%. Two porphyriacs with perforations died of peritonitis. Ulcers were found in 21 (24.4%) of 86 patients with normal activity of erythrocyte uroporphyrinogen decarboxylase, i.e. they had sporadic (acquired) porphyria cutanea tarda. Two (10%) of 20 patients suffering from the familial form of the disease (with low erythrocyte uroporphyrinogen decarboxylase activity) had ulcers. The examination of 105 unselected porphyriacs showed a significantly higher incidence of blood group B in comparison with the general population (23.8% vs. 16.6%). The association between the porphyriacs with ulcers and blood group B (8 of 21 examined persons) and the rare occurrence of group O (only 4 of 21) was unexpected. An association between porphyria and some of the haptoglobin types could not be established in 98 unselected patients (including those with and without ulcer). More studies are needed to substantiate the validity of blood groups and uroporphyrinogen decarboxylase as genetic markers for porphyria cutanea tarda combined with peptic ulcer. Porphyria cutanea tarda (PCT) is the commonest human porphyria in most countries of the world. It is characterized by photosensitivity, mild to moderate hepatic siderosis and marked elevation of the highly carboxylated porphyrins in plasma and urine. A significantly higher incidence of peptic ulcer (PU) was reported in PCT patients in Spain in comparison with the general population.¹ The reason for this is unknown. The liver damage and the alcohol consumption in most PCT patients could only partially explain such a high frequency. In both diseases, the aetiological role of hereditary and genetic factors have been considered. It is known that in patients with duodenal ulcer, blood group O is particularly common.² Two forms of PCT exist. In the familial type a decreased activity of the enzyme, uroporphyrinogen decarboxylase (Uro D) is found in erythrocytes. In sporadic (acquired) PCT the enzyme activity in erythrocytes is normal. However, some hereditary predisposition in the sporadic form cannot be excluded.³ This makes an investigation of some genetic markers in PCT a reasonable goal. The HLA system has been already studied in this disease, but the results do not provide a clear-cut conclusion.^4–6 We were not able to find any data on two other routinely determined genetic markers—the blood groups and haptoglobin types. As an increased association between PCT and PU could be expected anyway, and not only in Spain, and as it seems appropriate to determine the blood groups and haptoglobin types in PCT, we undertook the present study. Its aim was to examine (i) the incidence of PU among patients with familial and sporadic PCT in Bulgaria and (ii) the distribution of blood group and haptoglobin types in PCT patients as a whole and in the porphyriacs with and without PU.     

Porphyria cutanea tarda associated with human immunodeficiency virus infection. A study of four cases and review of the literature

We report the cases of 4 male subjects, 29, 32, 41 and 44 years old, presenting isolated seropositivities for the human immunodeficiency virus (HIV), or full-blown acquired immunodeficiency syndrome, associated with a typical porphyria cutanea tarda (PCT). The 4 patients are in the usual risk groups for HIV infection. Viral hepatitis was observed in 3 of the 4 cases. Over the past 3 years, 15 cases associating HIV infection and PCT have been reported; almost all had the usual risk factors for HIV infection and hepatopathy. We speculate that HIV infection may have favored the occurrence of early PCT in these cases by altering the metabolism of the porphyrins, either directly or by means of the associated hepatopathy.     

Porphyria cutanea tarda and agricultural pesticides

Some cases of porphyria cutanea tarda have been associated with the use of the organochlorine insecticide lindane and the organophosphorous insecticide diazinon. In the case of diazinon, an impurity is the active agent. This impurity has been identified as an isomer of diazinon and is designated isodiazinon. In rats treated with diazinon and isodiazinon, increased faecal excretion of porphyrins was seen oniy in animals treated with both compounds. In these animals the enzyme ferrochelatase was significantly inhibited. It is suggested that porphyria eutanea tarda only arises on exposure to these agents in persons with a pre-existing deficiency of uroporphyrinogen decarboxylase.