| diagnosis of porphyria cutanea tarda is usually fairly straightforward because of the characteristic clinical findings. Blisters and erosions develop acutely on sun-exposed skin, sometimes accompanied by hypertrichosis, abnormal pigmentation, and milia formation. iron stores are usually elevated, and liver transaminases and blood glucose levels are often above normal as well. Gross examination of the urine can provide a valuable clue, since urine of porphyria cutanea tarda patients is red to brown in natural light and pink to red in fluorescent light. biopsy of a bullous lesion is useful to rule out other diseases. Confirmation of porphyria cutanea tarda requires measurement of porphyrin levels in a 24-hour urine collection. Once the diagnosis is confirmed, it appears reasonable to screen all patients with porphyria cutanea tarda for hepatitis c and possibly B, but especially those less than 30 years old who have extremely high liver transaminase levels. Therapeutic measures for porphyria cutanea tarda include avoidance of exacerbating factors, especially ultraviolet light, ethanol, and certain medications. phlebotomy or chloroquine therapy is reserved for patients in whom conservative measures fail. ( info) |
2/87. Highly active antiretroviral therapy leading to resolution of porphyria cutanea tarda in a patient with AIDS and hepatitis c. The association between hiv infection and porphyria cutanea tarda (PCT) is not well established. Since almost all hiv-infected patients with PCT previously described in the literature had additional risk factors for PCT, it is still unclear if hiv infection and not a cofactor such as hepatitis c virus is the trigger for PCT in this population. We describe a patient with AIDS and hepatitis c who developed bullous lesions due to PCT. The cutaneous lesions persisted for 18 months and resolved after he was placed on highly active antiretroviral therapy for hiv. No other therapeutic interventions were undertaken, while exposure to other known precipitants remained unchanged. During follow-up, skin lesions reappeared when the patient discontinued antiretroviral therapy, but PCT lesions again resolved after he restarted highly active antiretroviral therapy and hiv infection was controlled. This case supports the hypothesis that a direct causative relationship exists between hiv and the development of PCT. ( info) |
| We describe the case of a 44-yr-old woman, suffering from rheumatoid arthritis for 15 yr, who developed porphyria cutanea tarda while being treated with methotrexate. The cutaneous lesions healed and the metabolic anomalies improved after a few months, despite continuing the treatment. ( info) |
4/87. Bullous dermatoses in end-stage renal failure: porphyria or pseudoporphyria? Bullous dermatoses (BD) are well recognized in patients with end-stage renal disease (ESRD). It is important to distinguish pseudoporphyria (porphyrin accumulation due to decreased clearance) from true porphyrias, particularly those in which acute neurological attacks may occur. Investigation of the dialysis patient poses practical diagnostic difficulties because urinary porphyrin profiles are not available. We describe a patient on continuous ambulatory peritoneal dialysis (CAPD) with several recognized causative factors for porphyria cutanea tarda (PCT). The patient presented with a blistering photosensitive rash. We highlight the importance of investigating anuric patients with fractionation of both fecal and plasma porphyrins. Plasma porphyrins were grossly elevated (345 nmol/L; reference range, <13), whereas plasma porphyrins in a control group of CAPD patients without blistering rashes were only minimally elevated (mean, 23.9 nmol/L; SD, 11.0; n = 9). Fractionation of fecal porphyrins by high-performance liquid chromatography (HPLC) yielded a pattern typical of PCT. In addition to the contributory factors for PCT that were present, it is possible that porphyrin accumulation secondary to renal failure played a role in the expression of her disease. patients with ESRD presenting with BD require careful evaluation, including fractionation of fecal porphyrins. ( info) |
| We report a patient presenting with lichenoid plaques on exposed skin who had the metabolic features of porphyria cutanea tarda (PCT). histology of lesional skin demonstrated a lichenoid inflammatory cell infiltrate in the upper dermis, while direct immunofluorescence revealed immunoreactive colloid bodies. Monochromator irradiation testing demonstrated photosensitivity in the visible spectrum consistent with porphyria. Solar-simulated irradiation induced a papular reaction with lichenoid histological changes. We propose that this atypical presentation of PCT may reflect a lichenoid tissue response to a porphyrin-mediated photochemical reaction. ( info) |
6/87. Hepatocellular carcinoma presenting with acquired porphyria: a case report and review of the literature. Hepatocellular carcinoma (HCC) with acquired porphyria is a very rare condition. It is characterized variably by hyperpigmentation, skin fragility and photodistributed subepidermal vesicles. The serum, urine and/or stool porphyrin levels, usually markedly elevated, can change according to the clinical course. We report here a case of hepatocellular carcinoma presenting with a paraneoplastic syndrome of acquired porphyria. A 73-year-old Chinese woman had the characteristic facial pigmentation of cutaneous porphyria and histologically proven hepatocellular carcinoma. Her serum zinc protoporphyrin was elevated and her urine tested positive for coproporphyrin. Her protoporphyrin and alpha-fetoprotein levels dropped after transarterial chemoembolization treatment. Acquired porphyria in hepatocellular carcinoma occurs exclusively in older persons with huge hepatocellular carcinoma and/or cirrhosis. Before diagnosis, it must be carefully differentiated from inherent porphyrias with HCC, and porphyrias induced by drugs or heavy metal intoxication must be ruled out. ( info) |
7/87. porphyria cutanea tarda occurring in a patient with renal failure, systemic lupus erythematosus and chronic hepatitis c infection treated with hemodialysis. The diagnosis and management of porphyria cutanea tarda (PCT) is complicated when it occurs in the context of renal failure, chronic hemodialysis, and anemia. We report a case of a woman who presented with painful acral blisters and hyperpigmentation. Her medical history included systemic lupus erythematosus, chronic hepatitis c infection, and renal failure necessitating chronic hemodialysis with a baseline anemia. A highly elevated serum porphyrin level led to the diagnosis of PCT. Treatment with small repeated phlebotomies and concomitant administration of erythropoietin was effective in managing her PCT. ( info) |
8/87. Two cases of nabumetone induced pseudoporphyria. Many different drugs and agents have been reported to induce pseudoporphyria. Nonsteroidal antiinflammatory agents have been implicated as some of the most common causes. The first case reports of nabumetone (Relafen) induced pseudoporphyria have recently been published. We report two more cases of pseudoporphyria induced by nabumetone and stress the importance of physician awareness with the use of this drug. ( info) |
9/87. Ineffective interferon treatment of chronic hepatitis c-associated porphyria cutanea tarda, but with a transient decrease in HCV rna levels. Many patients with porphyria cutanea tarda (PCT) have been reported to be hepatitis c virus (HCV) carriers, suggesting that HCV infection plays a role in the pathogenesis of this type of porphyria. In this study, we report a patient with chronic hepatitis c-associated PCT. Therapy with interferon (IFN) transiently decreased HCV rna levels, but levels of urinary porphyrins and serum transaminases and ferritin remained unchanged. serum ferritin and urinary porphyrin levels improved after phlebotomy, but this therapy was not effective in improving serum transaminase levels. Although a physiopathological association between HCV infection and PCT has been suggested previously, IFN was not effective in this patient. The transient decrease in HCV rna levels was a factor independent of porphyrin metabolism. ( info) |
10/87. Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. The treatment of porphyria cutanea tarda (PCT) in patients with chronic renal failure poses a therapeutic challenge. In the absence of renal failure, phlebotomy and oral antimalarials have been the standard of care for PCT. However, in the presence of renal failure, associated chronic anemia often precludes the use of phlebotomy, and oral antimalarials are usually ineffective. We describe a patient with severe symptomatic PCT and chronic renal failure whose disease was successfully managed with a combination of high-dose erythropoietin and small volume phlebotomy. We also review several previously reported approaches to management of PCT in the setting of renal failure, which include small repeated phlebotomy, erythropoietin, deferoxamine, chloroquine, plasma exchange, high-efficiency/high-flux hemodialysis, cholestyramine, charcoal hemoperfusion, and kidney transplantation. An algorithm for the management of these patients is proposed. ( info) |