Porphyria cutanea tarda and haemochromatosis: a family study.

Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.

The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda w...

Haemochromatosis gene mutations and response to chloroquine in sporadic porphyria cutanea tarda.

Sporadic porphyria cutanea tarda due to haemochromatosis.

Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues. Sometimes this disease presents as a cutanea porphyria. We describe a patient with joint complaints and blistering skin lesions on sun-exposed skin. After identifying the porphyria cutanea tarda by urine analysis we fo...

Pseudoporphyria in association with Hepatitis C virus infection: A case report

Pseudoporphyria is an uncommon bullous disease with similar clinical and histopathological findings to porphyria cutanea tarda, in the absence of detectable porphyrin elevation. We present a 34-year-old man with clinical and histological findings compatible with porphyria cutanea tarda, whose his urinary uroporphyrin was negative and we concluded that he was a case of pseudoporphyria. Concomita...

Porphyria cutanea tarda: effects and risk factors for hepatotoxicity from high-dose chloroquine treatment.

High-dose chloroquine therapy for porphyria cutanea tarda is rarely used now because of its hepatic side-effects. The mechanisms of the effects and side-effects are poorly understood. We describe here effects, side-effects and long-term follow-up in 57 patients with a first-time diagnosis of porphyria cutanea tarda treated with 1-3 phlebotomies followed by 250 mg chloroquine phosphate daily for...