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This report describes a case of sporadic porphyria cutanea tarda involving a 38-year-old Moroccan man. Clinical diagnosis was based on characteristic features, i.e., facial hypertrichosis and bullous lesions lasting four months during the summer of 2000 followed by macular scarring on the dorsal surfaces on the hands. Three well-known precipitating factors were noted, i.e., sun, ethanol and hepatitis C virus infection. Laboratory diagnosis was based on dark red urine and elevated serum and urine uroporphyrin levels. Enhanced uroporphyrin production was due to urodecarboxylase deficiency in the liver. Urodecarboxylase activity in red blood cells and serum ferritin level were normal. The patient is heterozygous for the His63Asp HFE gene mutation associated with hereditary hemochromatosis. The photoprotective effect of melanin in this dark-skinned patient failed to offset uroporphyrin-induced photosensitivity. Avoidance of sun, ethanol and phlebotomy have prevented recurrences.

Objectives: Porphyria cutanea tarda has been reported in about 60 patients with human immunodeficiency virus (HIV) since 1987. We looked for porphyrin metabolism disorders in HIV infected patients without patent porphyria cutanea tarda., Methods: Urinary porphyrin excretion was measured in 64 patients with an HIV infection., Results: Excreted levels were abnormal in 23 patients (36%) including 4 (6%) with patterns highly suggestive of porphyria cutanea tarda. One of these patients developed the disease 2 years later. In 15 patients (23%) there was a significant increase in coproporphyrinuria. Minimal alterations in uroporphyrin or its precursors were seen in the other patients. Abnormal excretion was significantly more frequent in patients with hepatopathy and in patients who had progressed to AIDS., Conclusion: Our findings suggest that HIV infection does not play a direct role in altered porphyrin metabolism because of the frequency of liver disorders observed in these patients.

We report two new cases of HIV-1 seropositive subjects who developed porphyria cutanea tarda (PCT). Laboratory examinations revealed a rise of uroporphyrin in the 24-hour urine and a fall of CD4 lymphocytes below 200/mm3 reflecting severe immuno-depression. Treatment with iterative phlebotomy resulted in regression of PCT. In both patients HIV seropositivity was discovered before PCT was diagnosed. Up to now, none of the hypotheses put forward concerning the exact role played by HIV in the genesis of PCT has been confirmed.

Porphyria cutanea tarda is a disorder of porphyrin metabolism that results from a deficiency of uroporphyrinogen decarboxylase, resulting in a characteristic pattern of porphyrin excretion. Elevated serum iron values are frequently observed among patients with porphyria cutanea tarda. The hypothesis has been advanced that a hemochromatosis allele is implicated in the clinical manifestation of porphyria cutanea tarda. We report the case of a patient suffering from both idiopathic hemochromatosis and porphyria cutanea tarda. The data of the medical literature concerning such an association are discussed.

Hemin is known as an interesting drug in the treatment of acute attacks of porphyria: this was verified in a case of porphyria variegata. Furthermore, bimestrial perfusion of 500 mg of hemin prevented new biological and clinical deterioration. If confirmed, this schedule would represent a major progress in the management of porphyria variegata.

The use of zero-crossing second-derivative spectrophotometry allows simultaneous determination of uroporphyrin and coproporphyrin directly in urines. Linearity and repeatability are excellent. Detection limit is about 8 nmol/l. Specificity is excellent too, except in unusual porphyrias where porphyrins with 5, 6 or 7 carboxylic groups are encountered. In such a case, this method allows the detection of increased porphyrins contents. The main advantage of this technique is its simplicity: it needs just to acidify urines and to plot a spectrum from 380 to 440 nm to determine the uroporphyrin and coproporphyrin concentrations. So it may be a very useful technic for clinical biochemistry laboratories in charge of monitoring patients suffering from porphyria.

Measurement of uroporphyrinogen I synthetase activity in red blood cells indicates a 40-50 p.cent decrease in patients with intermittent acute porphyria (30 +/- 6 units) when compared to normal control subjects (50 +/- 8 units). This measurement makes relatively easy the detection of asymptomatic carriers of the genetic defect, as early as the first day of life.