论文信息 - Hepatoerythropoietic Porphyria

Hepatoerythropoietic Porphyria

Abstract: A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis. Biochemically elevated levels of protoporphyrins in erythrocytes, uroporphyrins in urine, and coproporphyrins in feces are markers of this form of porphyria. A family study confirmed that he was homozygous for a defect of uroporphyrinogen decarboxylase. A triai with hydroxychloroquine produced no improvement.

A. Zina | G. Topi | S. Bundino | L. D. Gandolfo

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