Premium
Hepatoerythropoietic Porphyria
Author(s) -
Bundino S.,
Topi G. C.,
Zina A. M.,
Gandolfo L. D'Allessandro
Publication year - 1987
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1987.tb00784.x
Subject(s) - medicine , porphyria , dermatology
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.