Hepatoerythropoietic Porphyria.

Autor: Bundino, S., Topi, G. C., Zina, A. M., Gandolfo, L. D'AIIessandro
Předmět:
Zdroj: Pediatric Dermatology; Nov1987, Vol. 4 Issue 3, p229-233, 5p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index