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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 trial with hydroxychloroquine produced no improvement.
AuthorsS Bundino, G C Topi, A M Zina, L D'Allessandro Gandolfo
JournalPediatric dermatology (Pediatr Dermatol) Vol. 4 Issue 3 Pg. 229-33 (Nov 1987) ISSN: 0736-8046 [Print] United States
PMID3422855 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Hydroxychloroquine
Topics
  • Child
  • Erythropoiesis
  • Humans
  • Hydroxychloroquine (therapeutic use)
  • Liver Diseases (drug therapy, genetics, metabolism)
  • Male
  • Porphyrias (drug therapy, genetics, metabolism)

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