Hepatoerythropoietic Porphyria
Autor: | S, Bundino, G C, Topi, A M, Zina, L, D'Allessandro Gandolfo |
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Rok vydání: | 1987 |
Předmět: | |
Zdroj: | Pediatric Dermatology. 4:229-233 |
ISSN: | 1525-1470 0736-8046 |
DOI: | 10.1111/j.1525-1470.1987.tb00784.x |
Popis: | 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 trial with hydroxychloroquine produced no improvement. |
Databáze: | OpenAIRE |
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