Hepatoerythropoietic Porphyria

Autor: S, Bundino, G C, Topi, A M, Zina, L, D'Allessandro Gandolfo
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